American Journal of Medical Genetics 38:9-12 (1991)

Brief Clinical Report

Antecubital Pterygium and Cleft Lip/Palate Presenting as Signs of the Nail-Patella Syndrome: Report of a Brazilian Family

A. Richieri-Costa Laboratorio de Gene'tica Humana, Hospital de Pesquisa e Reabilitq6.o de LesBes Labio-Palatais, USP, Bauru, SP, Brazil

We report on 4 persons in a 3-generation Brazilian family presenting the nail-patella syndrome. Cleft lipipalate in one patient and antecubital pterygium in 3 of the reported pa- tients are unusual findings related to this con- dition.

KEY WORDS: hereditary osteo-onycho-dys- plasia, autosomal dominant inheritance, 3-generation fam- ily

INTRODUCTION The nail-patella syndrome is a pleiotropic malforma-

tionidysplasia syndrome. Nail dysplasia, patellar aihy- poplasia, arthrodysplasia of the elbows, iliac horns, and nephropathy are the main clinical findings [Love and Beiler, 1957; Duncan and Souter, 1963; Duthie and Hecht, 1963; Lucas and Opitz, 1966; Simila et al., 1970; Bennett et al., 1973; Morita et al., 1973; Daniel et al., 1980; Looij et al., 19881.

Cleft lipipalate and antecubital pterygium have been seldom reported in this condition [Duncan and Souter, 1963; Fenske and Spitalny, 1970; Hall et al., 19821.

Here we report on 4 patients of a 3-generation Bra- zilian family. From these patients, 3 had these addi- tional clinical findings, while one (with no clinical signs of the nail-patella syndrome) had only a small uni- lateral iliac horn.

CLINICAL REPORTS Patient 1

EAG (Fig. 11, the propositus, 6 months old. He is the first child born to a 30-year-old G l P l mother and her unrelated 23-year-old husband. Pregnancy was normal. Delivery at 36 weeks of gestation was through cesarean

Received for publication August 7,1989; revision received May 9, 1990.

Address reprint requests to A. Richieri-Costa, Laboratorio de Genetica Humana, Hospital de Pesquisa e Fkabilita@o de Lesdes Labio-Palatais, USP, PO BOX 620, 17043 Bauru, SP, Brazil

section. Birth weight was 1,900 g, length was 45 cm, and OFC was not recorded. Cleft lipipalate and limb anoma- lies were noted at birth. The propositus was first exam- ined a t age 6 months; he was healthy. His weight was 6.6 kg (3rd centile), length 63 cm (3rd centile), OFC 42 cm ( G O centile), outer canthal distance (OCD) 8.5 cm (>97th centile), inner canthal distance (ICD) 3.2 cm (>97th centile). He had: wide forehead, hypertelorism, broad nasal bridge, cleft lip/palate, limitation of elbow extension, antecubital pterygium (Fig. 21, broad thumbs, longitudinal striation of the fingernails 1-2-4-5 and toenail 1, hypoplastic toenail 5.

Results of routine blood and urine test showed: normal blood urea and creatinine, proteinuria, and hematuria. Renal biopsy was not performed.

Roentgenograms showed radial and ulnar head hypo- plasia (Fig. 3) and bilateral small iliac horns (Fig. 4).

Patient 2 MJOG (Fig. 51, the propositus mother. She was the

first child of a normal and nonconsanguineous couple. Examination a t age 30 years showed: weight: 41 kg (<3rd centile), height: 154 cm (<loth centile), OFC: 55

Fig. 1. The propositus.

0 1991 Wiley-Liss, Inc.

10 Richieri-Costa

cm (50th centile), OCD: 9.2 cm (>75th centile), ICD: 3.2 cm (>50th centile). She presented with short stature, limited pronation, supination, and extension of the el- bows, antecubital pterygium, clinodactyly of finger 5, longitudinal striations of the fingernails, mainly of the finger 1 (Fig. 6), and dysplastic toenails. Results of routine blood and urine tests showed: normal blood urea and creatinine. Proteinuria (1.2 gl24 hr; normal value: 100 mg/24 hr). Roentgenograms showed: bilateral radial and ulnar hypoplasia, radial bowing, large capitate (Fig. 7), bilateral iliac horns (Fig. 81, and absent patellae (Fig. 9).

Patient 3 MO (Fig. 51, the propositus aunt, the 4th child of a

G4P4 mother. Examination a t age 20 years showed: weight: 36 kg (<3rd centile), height: 146 cm (<3rd cen- tile), OFC: 54 cm (50th centile), OCD: 9.1 cm (>75th centile), ICD: 3.2 cm (>50th centile). She presented: short stature, posteriorly angulated ears, mild hypo- Fig, 2. Right arm of the propositus. The left arm is similar.

Fig. 3. Radiological aspects of the upper limbs of the propositus. Fig. 5. Lateral view of patient 2 (right) and patient 3 (left)

Fig. 4. Radiological aspects of the pelvis of the propositus (at age 2 years). Fig. 6 . Hands of patient 2

Nail-Patella Syndrome 11

plasia of the scapular girdle, limitation of the elbow DISCUSSION - motion, antecubiial PterYgium, clinodactYIY Of finger 57 The nail-patella syndrome is a well-known autosoma1 median groove of the nail of finger 1, and hypoplastic toenails.

Results of routine blood and urine tests showed: nor- ma1 blood urea and creatinine. Proteinuria.

Roentgenograms showed: bilateral radial and ulnar

dominant condition characterized by nail dysplasia, pa- tellar ahypoplasia, arthrodysplasia of the elbows, iliac horns, and nephropathy [ D ~ ~ ~ ~ ~ and Souter, 1963; Lucas and Opitz, 1966; Looij et al., 19881. In most re-

hypoplasia, subluxation of the radial head, bowed radius (Fig. 101, bilateral iliac horns (Fig. 111, and ahypoplas- tic patella (Fig. 12).

Patient 4 AO, the propositus grandfather. He was the second

child of a normal and nonconsanguineous couple. Exam- ination at age 59 years showed: wieght: 67 kg (50th centile), height: 168 cm ( 6 0 t h centile), OFC: 55 cm (50 centile). He had no related clinical signs of the nail- patella syndrome. Results of routine blood (urea and creatinine) and urine tests were normal. Roentgeno- grams showed a small iliac horn at right (Fig. 13).

Fig. 9. Radiological aspects of the knee joint of patient 2

Fig. 7. Radiological aspects of the upper limbs of patient 2. Fig. 10. Radiological aspects of the upper limbs of patient 3

Fig. 8. Radiological aspects of the pelvis of patient 2. Fig. 11. Radiological aspects of the pelvis of patient 3.

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Fig. 12. Radiological aspects of the knee joint of patient 3.

ported patients, arthrodysplasia of the elbows refers to the involvement of the radial and/or ulnar heads, mainly resulting in (sub)luxation, and leading to lim- ited pronation, supination, extension at the elbows with increased carrying angle. The association with typical antecubital pterygium has been seldom reported [Fenske and Spitalny, 19701. Its rare presence led Hall e t al. [ 19821 to point out the nosologic interest of this condi- tion in the context of the limb pterygium syndromes.

In the family here reported one patient with a “minor” form and 3 with the full clinical picture of the nail- patella syndrome-including renal involvement-were observed. Cleft lip/palate present in the propositus could be a fortuitous finding, since in an extensive survey of the literature Duncan and Souter [19631 were able to find this association only in one instance, and to our knowledge, no other case was reported with this sign. Oral and facial examination of the present family con- cerning the detection of “microforms” of cleft liplpalate showed no evidence of indirect signs of clefting. How- ever, antecubital pterygium resulting from the early limitation of movement due to the bony anomalies, or radial head dislocation at the elbow, could be accepted as a sign of the nail-patella syndrome, and could be taken into account in differential diagnosis of the limb pterygium syndromes. On the other hand, a “minor” form of the syndrome represented by a small iliac horn in the pelvis of the propositus grandfather had direct implications for genetic counselling, so recurrence in the offspring of “normal” parents should be looked at care- fully, and an accurate clinical and radiological examina- tion should be done searching for minor signs.

Fig. 13. Radiological aspects of the pelvis of patient 4.

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