American Journal of Medical Genetics 17:399-406 (1984)

The Tel Hashomer Camptodactyly Syndrome in a Consanguineous B razi I i a n Fa m i I y

T.R. Gollop and G.M.D.D. Colletto

Servico de Genetica Humana da Associacao Maternidade de SSo Paulo (TRG.) and Departamento de Biologia do lnstituto de Bioci6ncias da Universidade de S o Paulo (G. M. D. D. C.)

We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.

Key words: Tel Hashomer syndrome, camptodactyly, skeletal dysplasia, recessive inheritance, heterozygote manifestation

INTRODUCTION

The Tel Hashomer camptodactyly syndrome (THCS) consists of camptodactyly, muscle hypoplasia, skeletal anomalies, and abnormal palmar creases and was first described by Goodman et al [1972, 19761. The syndrome was thought to be transmit- ted as an autosomal recessive trait. Here, we give a third report of the THCS in a consanguineous Brazilian family with two affected children.

Clinical Reports

The children reported as patients 1 and 2 below are sibs; a younger brother is normal. The parents are first cousins. Father and mother are 36 and 29 years old, respectively.

Patient 1, ECS, the proposita, is a 7-year-old girl born at term after spontaneous onset of labor and uncomplicated vertex vaginal delivery weighting 2,000 g (small

Received for publication October 8, 1982; revision received June 25, 1983.

Address reprint requests to Dr. Thomaz Rafael Gollop, R. TabapuB, 649, 4" andl, conj. 44 cep. 04533 Slo Paulo, Brazil.

0 1984 Alan R. Liss, Inc.

400 Gollop and Colletto

for date). At 7 yr her height was 103 cm and lower segment 53 cm. She had normal intelligence and there were no abnormalities on neurological examination. The head was brachycephalic and measured 47 cm in occipitofrontal circumference (OFC). There was moderate facial asymmetry without ocular hypertelorism. She also had a small mouth, a philtrum of normal length, highly arched palate, and dental crowding, (Fig. I), severe thoracic scoliosis, and winging of scapulae (Fig. 2).

Hands showed camptodactyly of fingers 2, 3, and 5 on the right and of fingers 2, 3 , 4, and 5 on the left; there was mild cutaneous syndactyly of all fingers, no clinodactyly, but brachydactyly of both thumhs and tapering of fingers (Fig. 3 ) . The child had planovalgus feet and abnormal halluces. Muscle mass was generally re- duced, especially in the limbs.

Radiological examinations showed brachycephaly, bilaterally flat roof of the orbit, prominent maxilla (Fig. 4a-d), severe thoracolumbar scoliosis with lateral retraction of chest wall, bilateral hip luxation, luxation of both patellae (Fig. 5) , planovalgus feet with calcaneous valgu deformity. Both halluces were big and in a valgus position.

Results of laboratory exams, including urinalysis, blood cell count and deter- mination of creatine kinase, transaminase (SGOT and SGPT), and serum aldolase levels, were normal. Cytogenetics studies showed a normal female chromosome constitution.

Dermatoglyphic studies are summarized in the Table I. Of significant interest are bilateral transverse palmar creases, numerous additional palmar creases (so-called “white lines”), and vertical orientation of lines A and T. On left hand the ulnarity index of patient 1 was decreased (0.51; mean Brazilian normal value: 0.79 & 0.08). This was owing to marked radial displacement of the t triradius. The right hand, as well as hands of patient 2, did not show this alteration.

Patient 2, RCS, the proposita’s brother, is 9 years old, he was born at term after spontaneous onset of labor and uncomplicated vertex vaginal delivery weighing 2,530

Fig. 1. Facial appearance, ECS.

Fig. 2. ECS: muscle hypoplasia and scoliosis.

Tel Hashomer Camptodactyly Syndrome 401

g. At 9 yr he was 119 cm tall and had a lower segment of 60 cm. He had normal intelligence and there were no abnormalities on neurological examination. The head was normal and OFC was 53 cm. He had moderate facial asymmetry without ocular hypertelorisrn, but with ptosis and coioboma of the upper eyeiids, bilaterally absent inner eyelashes and convergent strabismus (Fig. 6). He also had a small mouth, increased length of upper lip, dental crowding, a highly arched palate, mild thoracic scoliosis, winging of scapulae, camptodactyly, of fingers 3, 4, and 5 on the right and of fingers 2, 3, and 5 on the left (Fig. 7). He also had proximal cutaneous syndactyly of all fingers, clinodactyly of the fifth fingers, brachydactylous thumbs, and tapering of fingers. Toes were enlarged but not malformed. Both feet were flat with heels in a calcaneous valgus position.

The muscles were small, especially in the limbs. Radiological studies showed no brachycephaly but bilaterally flat roof of the orbit (Fig. 4), mild left lateral retraction of chest wall, and mild scoliosis.

Results of laboratory exams, including urinalysis, blood cell count and deter- mination of creatine kinase, transaminase (SGOT and SGPT), and serum aldolase levels, were normal. Cytogenetics study showed normal chromosomes.

Dermatoglyphic studies documented similar findings as in his sister (Table I) and the patient had bilateral transverse palmar creases, numerous white lines, and vertical orientation of lines A and T. The b triradius is absent and the atd angle is increased owing to a rare ulnar loop present in the hypothenar region at the level of the transverse palmar crease. RCS has an increased A'-d ridge count on both hands. The Brazilian normal standards are 49.87 & 11.26 and 42.06 f 11.37 for left and right hands, respectively [Colletto et al, unpublished].

The father of these patients has an important clinical finding: bilateral campto- dactyly of the fifth fingers (Fig. 8).

DISCUSSION

These sibs have anomalies similar to those described by Goodman et a1 [1972, 19761; these are the first cases in nonsemitic people.

Fig. 3 . ECS: camptodactyly and tapered fingers.

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Gollop and Colletto

a

Fig. 4. and lateral (d) ).

Skull roentgenogram of ECS (AP (a) and lateral (b) ). Skull roentgenogram of RCS (AP (c )

Tel Hashomer Camptodactyly Syndrome 403

C

d

Figure 4.

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TABLE I. Dematoglyphic Findings in our THCS Family

Fingers 1 2 3 4 5

Left A A L" W A ECS Right A A Lu W A

Total Left A A A A A

RCS Right A A A L" A Total Left A L' A L" L"

Mother Right A L" L" L" L" Total Left L' A A L" L"

Father Right L' A A A W Total

TRC a-b

11 33 14 32 25 65 0 - 1 42 1 -

6 36 11 35 17 71 40 42 29 43 69 85

A'-d

44 45 89 64 66

130 62 44

106 63 49

112

atd angle

(degrees)

40 35 75

107 106 213 40 35 75 40 39 79

Main line index

7 7

14 5 7

12

5 7

12 7 7

14

Fig. 5. Bilateral patellar luxation of ECS.

Fig. 6. Facial aspect of RCS; note palpebral abnormalities.

Tel Hashomer Camptodactyly Syndrome 405

Fig. 7. Camptodactyly, syndactyly, and tapered fingers of RCS.

Fig. 8. Father’s fifth finger camptodactyly.

The palpebral abnormalities of RCS may represent a chance association, how- ever, the flat orbital roofs of both sibs probably are a clinical sign of the syndrome. Another important observation is the variation of severity with mild skeletal involve- ment in RCS and severe skeletal abnormalities in ECS, including luxation of the patellae.

Of great interest are the dermatoglyphics of the affected sibs who had a high number of arches in contrast to the description of Goodman et a1 [ 19761 who noted a high number of whorls; however, the other dermatoglyphic findings are similar to those previously described: transverse palmar creases, numerous palmar creases obliterating the normal structure of the ridges and openings of the sweat pores, and vertical orientation of lines A and T. Both parents have TRC below Brazilian standards, suggesting a heterozygote manifestation on dermatoglyphic studies (Brazil-

406 Gollop and Colletto

ian normal values are 151.72 f 52.71 and 130.72 _+ 52.91 for men and women, respectively).

Familial occurrence, equal sex ratio, and parental consanguinity in our THCS family is evidence for autosomal recessive inheritance; the occurrence of bilateral camptodactyly of fifth fingers in the father of the affected sibs may possibly represent a heterozygote manifestation.

Differential diagnosis must include the Guadalajara camptodactyly syndrome described by CantG et a1 [1980]. In this syndrome patients have low birth weight dwarfism, flat facies with prominent forehead, epicanthal folds, microcorneae, pectus excavatum, and small, apparently low-set ears with attached lobule.

ACKNOWLEDGMENTS

The authors are indebted to Professor John M. Opitz, Shodair Children’s Hospital, Montana, for his valuable critical revision.

REFERENCES

Cantu JM, Rivera H, Nazari Z, Rojas Q , Hernandez A, Garcia-Cruz D (1980): Guadalajara camptodac- tyly syndrome, a distinct probably autosomal recessive disorder. Clin Genet 18: 153-159.

Colletto GMDD, Campos MT, Frota-Pessoa 0 ( 1983): Dermatoglyphics in Twins: Heritability and asymmetry (unpublished).

Goodman RM, Katznelson MBM, Manor E (1972): Camptodactyly: Occurrence in two genetic syn- dromes and its relationship to other syndromes. J Med Genet 9:203-212.

Goodman RM, Katznelson MBM, Hertz M, Katznelson A (1976): Camptodactyly with muscular hypoplasia and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. J Med Genet 13: 136-141.

Edited by John M. Opitz