syndrome of hajdu-cheney: three case reports of orofacial ... · remaining temporary teeth and no...

Syndrome of Hajdu-Cheney: Three Case Reports of Orofacial Interest

E. Vingerhoedt, D.D.S., I. Bailleul-Forestier, D.D.S., Ph.D., P. Fellus, D.D.S., Ph.D., J. Schoenaers, M.D., Ph.D.,

J.-P. Frijns, D.D.S., Ph.D., C. Carels, D.D.S., Ph.D.

Hajdu-Cheney syndrome is a rare, probably autosomal dominant connectivetissue disorder with a variable expressivity. It is characterized by anosteoporotic skeleton, acro-osteolysis, a proportionate short stature, anddistinctive orofacial anomalies. The aim of this article is to focus on theorofacial manifestations in two sporadic cases and one familial case withHajdu-Cheney syndrome. Several common dental and craniofacial features aredescribed. In contrast to earlier proposed diagnostic features, these patientsshow persisting deciduous teeth, problematic tooth eruption, and tendencytoward a Class III malocclusion.

KEY WORDS: acro-osteolysis, Hajdu-Cheney syndrome, orofacial abnormalities,unerupted teeth

Hajdu-Cheney syndrome (HCS) is a rare autosomal

dominant connective tissue disorder (OMIM 102500) of

unknown genetic etiology. All patients show similar

characteristics: a short stature and generalized osteoporo-

sis, acro-osteolysis, skull deformities, facial anomalies

including micrognathia, and early loss of teeth. Abnormal-

ities in the skull include dolichocephaly and bathrocephaly,

persistent open cranial sutures, multiple wormian skull

bones, absence of frontal and hypoplasia of the other para-

nasal sinuses, and an elongated sella turcica. Secondary

effects include pathologic fractures, mostly of fingers and

toes, and progressive basilar impression.

This syndrome was first clinically and radiographically

described by Hajdu and Kauntze in 1948 and subsequently

by Cheney (1965). Since that time, the disorder has been

designated as Hajdu-Cheney syndrome (HCS). So far,

about 60 other patients have been described in the

literature. The vast majority have been sporadic cases,

probably due to de novo mutations (Elias et al., 1978; Van

den Houten et al., 1985; Crifasi et al., 1997; Ramos et al.,

1998; Brennan and Pauli, 2001; Antoniades et al., 2003).

The diagnosis of HCS is generally accepted when the

inclusion criteria listed in Table 1 are fulfilled. All

combinations of acro-osteolysis with any three of seven

characteristics result in HCS: wormian bones or open

sutures of the skull, platybasia, premature loss of teeth,

micrognathia, coarse hair, midfacial flattening, or short

stature (,fifth percentile). A documented family history of

HCS combined with acro-osteolysis or combined with two

additional manifestations out of the eight other features are

also considered sufficient for the inclusion of adults. For

children and adolescents, inclusion criteria are any four of

the features, including the eight previously mentioned and

acro-osteolysis, or any two of nine together with a

documented family history (Brennan and Pauli, 2001).

Distinctive radiographic findings, such as open cranial

sutures and elongated sella turcica, make the diagnosis

possible before clinical signs and symptoms are fully

developed (Marik et al., 2006).

The pathogenesis of the disease is not yet known.

Therefore, no curative treatment is available at present,

either to cure the disease in these patients or to stop the

osteolytic process. Bisphosphonates are, however, widely

used in the management of osteoporosis and are sometimes

given to patients affected with HCS suffering from a

generalized osteoporotic skeleton (Drake et al., 2003).

Young patients are being advised to guard against heavy

loads on the feet and hands to prevent spontaneous

fractures of the metatarsals. Once fractures occur, a

nonunion often persists thereafter due to delayed bone

healing. Treatment of these fractures is likely to be

conservative (Van den Houten et al., 1985).

Often other medical problems are present. Patients seem

very susceptible for various infections in different organ

systems, including kidneys and lungs.

The prognosis of HCS can be serious, depending on the

development of cystic renal changes and on the severity of

Dr. Vingerhoedt is a postgraduate student, Department of Orthodon-

tics, School of Dentistry, Oral Pathology and Maxillo-Facial Surgery,

Leuven, Belgium. Dr. Bailleul-Forestier is Visiting Professor, Centre of

Human Genetics, UZ & KU Leuven, Belgium, and Paediatric Dentistry

Department, Paris 7 University, Paris, France. Dr. Fellus is Orthodontist,

Paediatric Stomatology, R. Debre Hospital, AP-HP, France. Dr.

Schoenaers is Professor and Chairperson, Department of Maxillo-Facial

Surgery, Leuven, Belgium. Dr. Frijns is Professor and Chairperson,

Center of Human Genetics, Leuven, Belgium. Dr. Carels is Professor,

Department of Orthodontics, School of Dentistry, Oral Pathology and

Maxillofacial Surgery, KULeuven, Leuven, Belgium.

Submitted March 2009; Accepted February 2010.

Address correspondence to: Dr. Elisa Vingerhoedt, Department of

Orthodontics, Kapucijnenvoer 7, B-3000 Leuven, Belgium. E-mail

[email protected].

DOI: 10.1597/09-030

645

neurological symptoms probably caused by the basilar

invagination (Van den Houten et al., 1985; Faure et al., 2002).

CASE REPORTS OF OROFACIAL INTEREST

Case 1

Medical History and General Examination

A 10-year-old girl with HCS visited our department oforthodontics for the first time in 2006, complaining of

failure of permanent tooth eruption. She was born after

36 weeks of pregnancy with a birth weight of 2800 kg and

length of 48 cm. She was diagnosed with a congenital heart

disease (a narrowing of the aorta) and a luxation of the hip.

In early childhood, she suffered from recurrent urinary

tract infections. Hajdu-Cheney syndrome was diagnosed

when she was 2.5 years old. She has a coarse face andcoarse hair; bushy eyebrows; a long, smooth philtrum; a

broad nasal base (Fig. 1A); and short stubby fingers with

the presence of acro-osteolysis in the distal phalanges

(Fig. 4A). She appeared to be mildly mentally retarded.

Because of the progressive demineralization of her

skeleton and her proportionate short stature (body length,

117 cm), respectively, bisphosphonate therapy was given

intravenously every 3 months and growth hormone therapy

was started.

Craniofacial Examination

Extraoral craniofacial examination revealed a convex

profile, a retrognathic chin due to the posterior rotational

aspect of the mandible, a facial disharmony with vertical

midfacial hypoplasia, an obtuse nasolabial angle, and

incompetent lip seal (Fig. 1E).

X-rays of the craniofacial region revealed abnormalities

in the calvarium and cranial base, including persistent open

cranial sutures, protuberance of the squamous portion, an

enlargement of the sella turcica, an underdevelopment ofthe frontal sinus, occipital wormian bone formation along

the lambdoid sutures, basilar invagination at the level of

the mastoid bone, and a short mandibular ramus. In

contrast to her convex profile, the Witts analysis on the

lateral cephalographs revealed a progressive evolution to a

skeletal Class III (in 2006 Witts 5 22, and in 2009 Witts 5

26; Fig. 3A).

This patient was diagnosed with HCS, as the following

inclusion criteria were fulfilled: acro-osteolysis, multiple

wormian bones, several open cranial sutures, platybasia,

micrognathia, coarse hair, coarse face, and short stature

(,fifth percentile). Chromosomal analysis in a peripheral

blood lymphocyte culture revealed a 46 XX normal femalekaryotype. As both parents were clinically normal, this case

was classified as a sporadic case of HCS (Table 1).

Oral Examination

The intraoral clinical examination revealed the presence

of nine erupted teeth (i.e., first permanent molars and five

deciduous teeth; Fig. 2A). This points to a general tooth

eruption delay of 3 years (Demirjian et al., 1973; Demirjian

and Goldstein, 1976). A distal molar occlusion was present;

however, the front teeth were in an edge-to-edge incisal

relation pointing to a dental Class III tendency. The

orthopantomogram showed the presence of all permanentteeth, abnormal tooth positions throughout the unerupted

permanent dentition, short and malformed roots of the

upper molars, and an underdevelopment of the alveolar

process (Fig. 2E). Dental maturation calculated using the

technique described by Demirjian et al. (1973) showed 2 years

of retardation (,third percentile).

Treatment and Progress

The patient did not have any erupted permanent upper

front teeth (Fig. 2A). The failure of teeth to erupt

spontaneously might be due to her bisphosphonates

medication (Aredia), which inhibits osteoclast activationand activity necessary to resorb the bone lying over the

nonerupting teeth.

Surgical exposure of the anterior teeth in the upper and

lower jaw was performed very carefully, as there is evidence

that the intake of bisphosphonates might increase the risk

for osteonecrosis of the jaws (Sambrook et al., 2006).

TABLE 1 Diagnostic Features of Hajdu-Cheney Syndrome in Cases 1, 2, and 3*

Diagnostic Features of HCS Adults ChildrenCase 1(10 y)

Case 2(8 y)

Case 3(6 y)

Father Case 3(38 y)

1. Acro-osteolysis #1 and three additional Any four manifestations + + 2

2. Wormian bones or open sutures Manifestations from #2–#9 From #1–#9 + + +3. Platybasia OR OR + + +4. Early loss of teeth # 10 and #1 #10 and any other two 2 2 2

5. Micrognathia OR manifestations + + +6. Coarse face #10 and two additional + + +7. Coarse hair manifestations from #2#9 + + +8. Midfacial flattening 2 2 +9. Short stature + 2 +

10. Documented positive

family history

2 2 + 2

* + 5 positive for feature; 2 5 negative for feature. Source: Brennan and Pauli, (2001). Reprinted with permission of Wiley-Liss, Inc., a subsidiary of John Wiley & Sons, Inc.

646 Cleft Palate–Craniofacial Journal, November 2010, Vol. 47 No. 6

FIGURE 1 Clinical information of the different cases reported in this article. A–D: Frontal facial view showing the typical features of Hajdu-Cheney syndrome,

including coarse face, coarse hair, bushy eyebrows, long philtrum, broad nasal base, short neck, hypertelorism, and low-set ears. E–G: Lateral facial view that

visualizes the slight facial convexity. H: Concave profile.

Vingerhoedt et al., HAJDU-CHENEY SYNDROME: CASES OF OROFACIAL INTEREST 647

FIGURE 2 Intraoral and radiological information of the four described cases. A–D: Intraoral frontal view showing the delayed dental maturation, with

remaining temporary teeth and no premature tooth loss. The children have tendency toward a class III malocclusion. E–H: The OPT shows outspoken crowding,

rotations, and other abnormal tooth positions throughout the (un)erupted permanent dentition.


At the orthodontic follow-up 6 months later, all upper

and lower incisors, as well as the first premolars, had further

erupted spontaneously. Although early exfoliation of teeth

in association with HCS has been described in previous casereports (Grant et al., 1995; Bazopoulou-Kyrkanidou et al.,

2007) and a slower orthodontic tooth movement and higher

rate of root resorption during the intake of bisphosphonates

have been reported (Krishnan and Davidovitch, 2006), an

orthodontic treatment with fixed appliances was undertaken

for aligning the extremely malpositioned upper front teeth.

Treatment with fixed appliances started in June 2008 to

guide the impacted and malpositioned teeth with light forceinto occlusion (Fig. 5A through 5E).

Case 2


An 8-year old boy diagnosed with HCS at the Center of

Human Genetics of the University Hospitals KULeuven

visited our department of orthodontics for a general

checkup of his dentition and occlusion. The medical history

revealed a normal pregnancy but congenital bilateral renalpolycystosis, heart problems, and hyperlaxity of the joints.

There was normal mental development, and the patient was

taking no medication. General clinical examination showed

a proportionate normal stature (body length, 104.5 cm) and

body weight (23.5 kg) but a coarse face and coarse hair;

bushy eyebrows; a long, smooth philtrum (Fig. 1B); and

short, stubby fingers (Fig. 4B). X-rays showed the presence

of acro-osteolysis of the distal phalanges of the fingers.

Craniofacial Examination

Extraoral craniofacial examination revealed a retrognath-

ic chin, a steep mandibular plane angle combined with a

short ramus, an obtuse nasolabial angle, and an incompetent

lip seal (Fig. 1F). X-rays of the craniofacial region showed

persistent open cranial sutures along the lambdoid sutures

and at the level of the mastoid, basilar invagination, a

protuberance of the squamous portion of the occipital bone,and underdevelopment of the frontal sinus (Fig. 3B). In

contrast with his convex profile, the Witts analysis on the

lateral cephalographs revealed a tendency to a skeletal Class

III (in 2008 Witts 5 +7, and in 2009 Witts 5 0).

With the symptoms of acro-osteolysis, open cranial sutures,

platybasia, micrognathia, coarse hair and face, the diagnosis

of HCS was confirmed (Table 1). This patient was also

classified as a sporadic case, as family history was negative.

Intraoral Examination

Clinical examination revealed a retarded development ofthe dentition. Although in a typical 8-year-old boy, 6 to 12

permanent teeth should have erupted, there were only 3

permanent and 19 deciduous teeth present in the current

FIGURE 3 Cephalometric x-rays of the three cases with Hajdu-Cheney

syndrome. A–C: The common craniofacial findings, including open cranial

sutures, occipital protuberance, platybasia, and micrognathia can be seen

and are clearly observed on the lateral cephalogram.


patient (Fig. 2B). A tendency to a dental Class III

malocclusion was present (a crossbite on the right side,

end to end on the left side; the front teeth are not in edge to

edge, however). The OPT (dd 2008) showed the presence of

all permanent teeth, but there were eruption disturbances

throughout the unerupted permanent dentition (Fig. 2F).

Treatment and Progress

As the extraction of some deciduous teeth (52, 55, 61, 62,

65, 81) did not accelerate the eruption of the front teeth, it

was decided to plan the surgical exposure of the front teeth

and to follow the dental development every 6 months.

Case 3


A 6-year-old boy came to the orthodontic department in

R. Debre Hospital (Paris, France). He was diagnosed with

HCS at the age of 4 years with the following clinical

features: facial dysmorphism (Fig. 1C), short stature

(21SD), wide-open fontanel, and hypertrichosis.

The medical anamnesis revealed a normal pregnancy but

an intrauterine growth retardation (weight, 2100 kg; length,

45 cm); the parents are not consanguineous. His father also

had HCS with scoliosis and a short stature (1m57). For the

time being, the boy was not undergoing medical therapy

and had only a renal ultrasonographic follow-up. At

clinical examination at age 6 years, the child had a normal

stature, but he received growth hormone therapy. However,

he showed some behavioral retardation.

The radiographic examination of the hands in this

patient did not show acro-osteolysis (Fig. 4C).

Craniofacial Examination of Case 3

Extraoral craniofacial examination revealed a flat

profile, a retrognathic chin, a tendency toward a skeletal

Class III relationship with a hypoplastic maxilla, a facial

disharmony, an obtuse nasolabial angle, and an incompe-

tent lip seal (Fig. 1G).

X-rays of the craniofacial region revealed defects in the

ossification of the coronal, occipito-mastoidal, and eth-

moido-sphenoidal sutures; the metopic suture was open, and

there was occipital wormian bone formation. The zygomatic

apophysis was very thin, and the sella turcica apperared

lengthened; the frontal sinus was clearly underdeveloped,

and there was a basilar invagination (Fig. 3C).

With the symptoms of open cranial sutures, platybasia,

micrognathia, coarse hair, and coarse face, the diagnosis of

HCS was confirmed (Table 1). In contrast with the other

two patients, the patient was classified as a familial case.

Craniofacial Examination of the Father

The extraoral examination of the father showed an

asymmetric face, low-set ears, and a concave profile with a

FIGURE 4 Hand-wrist radiographs show (A) the presence of acro-osteolysis in the right hand and (C) the absence of acro-osteolysis in the third case. B: A

picture of the right hand with short, stubby fingers.


skeletal Class III relationship (Fig. 1D and 1H). Unfortu-

nately, craniofacial x-rays of the father were not available.

Intraoral Examination of Case 3

Clinical examination showed all deciduous teeth present

with fusion of the mandibular incisors (81 to 82, 71 to 72;

Fig. 2C). The patient had poor oral hygiene and dental

decay on the buccal aspect of the maxillary central incisors.

He had a dental Class III malocclusion with maxillary

endognathia and an anterior open bite. The OPT showed

the presence of all permanent tooth germs, apparently with

large maxillary central incisors. A delay of maturation of

the permanent teeth was observed (,10th percentile;

Demirjian et al., 1973; Demirjian and Goldstein, 1976).

Intraoral Examination of the Father

This 38-year-old man had a poor oral hygiene and seven

missing teeth (five incisors, one molar, and one premolar).

FIGURE 5 An orthodontic treatment with fixed appliances was undertaken in case 1 for alignment of the extreme malpositioned front teeth in the upper jaw.

Intraoral views of the fixed appliance therapy: (A) frontal; (B) lateral, right side; (C) lateral, left side; (D) lower jaw; and (E) upper jaw.


The central maxillary incisor was malformed (Fig. 2D), and

the OPT showed abnormal root morphologies, including

short premolar roots and taurodontic molars (Fig. 2H).

DISCUSSION

Hajdu-Cheney syndrome is mostly considered to be an

autosomal dominant condition, but Van den Houten et al.

(1985) reported consanguineous parents with an affected

daughter and suggested genetic heterogeneity. Most cases

described in the literature are sporadic, which means that

both parents are normal (Allen et al., 1984; Antoniades et

al., 2003). Of our three cases with HCS, two were sporadic

cases, and one was familial.

For the three children presented in this study, HCS was

diagnosed between the age of 2.5 and 4 years. In the

familial case, it helped to confirm the diagnosis in the

father. Table 1 gives an overview of the diagnostic features

of HCS present in Cases 1, 2, and 3, whereas Table 2

indicates the general and clinical features for each case.

Growth below the fifth percentile is common in HCS and

is present in more than 50% of the patients (Brennan and

Pauli, 2001). Two of our three cases had initially a short

stature and were treated with growth hormone.

Another notable feature in HCS is the acro-osteolysis in

the distal phalanges of the fingers and, less frequently, of

the toes. Two of the three cases showed acro-osteolysis

(Fig. 4A and 4B). In case 3, no acro-osteolysis was

observed (Fig. 4C), but this feature is reported to usually

develop in late childhood (Leidig-Bruckner et al., 1999).

Case 1 had a progressive demineralization of the skeleton

treated with bisphosphonates, similar to a case of HCS

previously described by Drake et al. (2003). In the familial

case of HCS, no medical therapy, except for growth

hormone therapy, was used.

Hajdu-Cheney syndrome is of particular interest to the

orofacial health care practitioner because the various

craniofacial manifestations represent a constant feature of

this condition.

The major clinical craniofacial characteristics, as de-

scribed by Brennan and Pauli (2001), are bushy eyebrows,

hypertelorism, coarse features, long philtrum, broad nasal

base, short neck, low-set ears, occipital prominence,midfacial flattening, micrognathia, and abnormal dentition.

Even these typical abnormalities are far from uniformly

present in all HCS patients, as reviewed by Brennan and

Pauli (2001), but in the present three cases, almost all of these

features were present (Figs. 1A through 1H, 2A through 2H,

3A through 3C).

Major craniofacial radiological characteristics are wor-

mian bones, open sutures, basilar invagination, sellar

abnormalities, and hypoplastic frontal sinuses. These

diagnostic features can be easily recognized on the lateral

cephalographs in all presented cases (Fig. 3A through 3C).Only the girl (case 1) had open cranial sutures with the

presence of wormian bones and enlargement of the sella

turcica, whereas the other cases described in this article

have only open cranial sutures and no enlarged sella

turcica. It is in contrast with the literature that cranial

wormian bones are more commonly reported than open

cranial sutures (Brennan and Pauli, 2001).

This report describes three individuals in primary or

mixed dentition (Fig. 2A–2C); for two of them, there was a

delay in dental maturation and eruption. Prabhu and

Munshi (1996) reported early eruption in a 5-year-old boy,but in case 1, the tooth eruption was stimulated by the

extraction of primary teeth or the surgical exposure of

permanent teeth.

The delay in eruption of permanent teeth in our patients

is probably due to retarded maturation and/or local

disturbance resulting from fibromatous gums, not previ-

ously described in HCS. In this survey, no abnormal tooth

mobility or premature tooth loss was observed in the

primary dentition, in contrast with Antoniades et al.

(2003), who described a 9-year-old boy with only three

remaining deciduous teeth. In case 1, the mandibularpermanent incisors presented an increased mobility. The

adult patient, even with his poor oral hygiene, had seven

missing teeth and did not complain of any tooth mobility

(Fig. 2D). Previous publications (Prabhu and Munshi, 1996;

Antoniades et al., 2003) consider the early loss of teeth as a

characteristic to establish the diagnosis of HCS. According

to our and previous findings (Elias et al., 1978; Prabhu and

Munshi, 1996), this feature could be reconsidered inchildhood. Further research is, however, required to identify

why some subjects are more prone to tooth mobility.

In addition, this report observed malformed teeth,taurodontic molars, and fusion of temporary mandibular

incisors not previously described in literature as far as we

know (Fig. 2A through 2H). Short and malformed roots on

the other hand have been previously described, and

TABLE 2 Other General and Clinical Features of Hajdu-Cheney

Syndrome Present in Cases 1, 2, and 3

Other Features of HCS Case 1 Case 2 Case 3

Congenital heart disease + 2 2

Recurrent infections + 2 2

Renal abnormalities + 2 2

Mild mental retardation + 2 2

Fractures + 2 2

Bushy eyebrows + + +Hypertelorism + + +Long philtrum + + +Broad nasal base + + +Low-set ears + + +Short neck + + +Broad, stubby fingers + + 2

Club feet + + 2

Occipital prominence + + +Sella elongation + 2 +Hypoplastic frontal sinus + + +Malocclusion + + +Thick fibrous gums + + 2

Hypermobile teeth + 2 2


resorption of alveolar bone is also a common finding

(Brennan and Pauli, 2001; Bazopoulou-Kyrkanidou et al.,

2007). In case 1, we observed thin and malformed roots of

the upper molars, and the ridge of the alveolar bone seems

slightly resorbed in the lower jaw (Fig. 2E).

Although at a young age our patients have a convex

profile (Fig. 1E through 1G), it seems that the tendency

toward the development of a skeletal Class III jaw relation

becomes more obvious later on and progresses to apparent

prognathia later in life (Brennan and Pauli, 2001). In the

familial case, the skeletal Class III relationship is also

clearly present in the father.

In the first case, the surgical exposure of the anterior

teeth in the upper and lower jaw was successful for the

induction of spontaneous tooth eruption. Although ortho-

dontic therapy in patients with HCS may be contraindi-

cated in the case of increased mobility of the teeth, short

roots, as well as the unpredictable bone response to

orthodontic forces, orthodontic therapy with fixed appli-

ances and mild forces was started to guide the impacted and

malpositioned teeth in occlusion (Fig. 5A through 5E).

Successful treatment with fixed orthodontic appliances was

also described in an HCS patient by Bazopoulou-Kyrka-

nidou et al. (2007).

CONCLUSION

Two sporadic cases and one familial case of HCS with

several orofacial abnormalities were reported. In contrast to

most cases described in the literature, the three children had

remaining deciduous teeth, no premature tooth loss, and a

tendency toward a skeletal Class III malocclusion. In the

case of problematic tooth eruption, surgical exposure of

retained permanent teeth favored their eruption; tooth

movement with fixed orthodontic appliances was successful.

Acknowledgments. The authors thank Dr. Le Merrer for clinical

information.

REFERENCES

Allen CM, Claman L, Feldman R. The acro-osteolysis (Hajdu-Cheney)

syndrome. Review of the literature and report of a case. J Periodontol.

1984;55:224–229.

Antoniades K, Kaklamanos E, Kavadia S, Hatzistilianou M, Antoniades

V. Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental

interest. Oral Surg Oral Med Oral Pathol Oral Radiol Endod.

2003;95:725–731.

Bazopoulou-Kyrkanidou E, Vrahopoulos TP, Eliades G, Vastardis H,

Tosios K, Vrotsos IA. Periodontitis associated with Hajdu-Cheney

syndrome. J Periodontol. 2007;78:1831–1838.

Brennan AM, Pauli RM. Hajdu-Cheney syndrome: evolution of

phenotype and clinical problems. Am J Med Genet. 2001;15;

100:292–310.

Cheney WD. Acro-osteolysis. Am J Roentgenol. 1965;94:595–607.

Crifasi PA, Patterson MC, Bonde D, Michels VV. Severe Hajdu-Cheney

syndrome with upper airway obstruction. Am J Med Genet.

1997;70:261–266.

Demirjian A, Goldstein H. New systems for dental maturity based on

seven and four teeth. Ann Hum Biol. 1976;3:411–421.

Demirjian A, Goldstein H, Tanner JM. A new system of dental age

assessment. Hum Biol. 1973;45:211–227.

Drake WM, Kendler DL, Rosen CJ, Orwoll ES. An investigation of the

predictors of bone mineral density and response to therapy with

alendronate in osteoporotic men. J Clin Endocrinol Metab. 2003;

88:5759–5765.

Elias AN, Pinals RS, Anderson HC, Gould LV, Streeten DH. Hereditary

osteodysplasia with acro-osteolysis (the Hajdu-Cheney syndrome).

Am J Med. 1978;65:627–636.

Faure A, David A, Mousally F, Khalfallah M, Jacquemont S, Hamel O,

Conti M, Hamel A, Raoul S, Robert R. Hajdu-Cheney syndrome and

syringomyelia. Case report. J Neurosurg. 2002;97:1441–1446.

Grant S, Franklin CD, Lund I. Acro-osteolysis (Hajdu-Cheney)

syndrome: report of a case with abnormal tooth structure. Oral Surg

Oral Med Oral Pathol Oral Radiol Endod. 1995;80:666–668.

Hajdu N, Kauntze R. Cranio-skeletal dysplasia. Br J Radiol.

1948;21:42–48.

Krishnan V, Davidovitch Z. The effect of drugs on orthodontic tooth

movement. Orthod Craniofacial Res. 2006;9:163–171.

Leidig-Bruckner G, Pfeilschifter J, Penning N, Limberg B, Priemel M,

Delling G, Ziegler R. Severe osteoporosis in familial Hajdu-Cheney

syndrome: progression of acro-osteolysis and osteoporosis during long-

term follow-up. J Bone Miner Res. 1999;14:2036–2041.

Marik I, Kuklik M, Zemkowa D, Kozlowski K. Hajdu-Cheney syndrome:

report of a family and a short literature review. Australas Radiol.

2006;50:534–538.

Prabhu NT, Munshi AK. Hajdu-Cheney syndrome: case report. J Clin

Pediatr Dent. 1996;20:169–172.

Ramos FJ, Kaplan BS, Bellah RD, Zackai EH, Kaplan P. Further

evidence that the Hajdu-Cheney syndrome and the ‘‘serpentine fibula-

polycystic kidney syndrome’’ are a single entity. Am J Med Genet.

1998;78:474–481.

Sambrook P, Olver I, Goss A. Bisphosphonates and osteonecrosis of the

jaw. Aust Fam Physician. 2006;35:801–803.

Van den Houten BR, Ten Kate LP, Gerding JC. The Hajdu-Cheney

syndrome: a review of the literature and report of 3 cases. Int J Oral

Surg. 1985;14:113–125.


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