American Journal of Medical Genetics 29:205-208 (1988)

Brief Clinical Report: Acrofacial Dysostosis With Postaxial Limb Deficiency

J.P. Fryns and H. Van den Berghe

Center for Human Genetics, University of Leuven, Belgium

Here we report on an adult man with the postaxial acrofacial dysostosis syndrome, as delineated by Miller et a1 [ 19791. In addition to facial changes strikingly similar to that of the Treacher-Collins syndrome and a cleft soft and hard palate, symmetrical postaxial limb deficiencies with absence of the fifth digital rays in both the upper and lower limbs were present.

Key words: pastaxial limb deficiency, acrofacial dysastosis, cleft lip/cleft palate

INTRODUCTION

In 1979 Miller et a1 delineated a new malformation syndrome combining a variable degree of mandibulofacial dysostosis and symmetrical postaxial limb deficiencies. Up to now, no adult patient with this condition has been reported.

CASE REPORT

A 24-year-old man was seen at the Genetic Clinic for further diagnosis and genetic counseling. He was the second and youngest child of healthy, unrelated parents. At his birth, the father was 31 years and the mother 30 years old. Family history was negative with regard to congenital malformations, mental handicaps, and consanguinity. Preg- nancy was normal, and delivery was at term without complications. Birthweight was 3,250 g. At birth a cleft of the hard and soft palate was seen, and postaxial limb deficiencies with absence of the fifth digital rays in both upper and lower limbs were present. In addition, a rudimentary “extra finger,” 1 cm in length, was present at the top of the IVth metacarpal of the left hand and was removed at age 9 months. The cleft palate has been

Received for publication May 18, 1987; revision received June 29, 1987.

Address reprint requests to J.P. Fryns, Center for Human Genetics, U.Z. Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium.

0 1988 Alan R. Liss, Inc.

206 Fryns and Van den Berghe

Fig. 1. The facial changes with marked malar hypoplasia and Treacher-Collins-like appearance.

repaired. Physical and intellectual development was otherwise normal, and except for bilateral inguinal herniae no other medical problems occurred.

Now, at age 24 height is 170 cm, weight 55 kg and head circumference 55 cm. There is mild midfacial hypoplasia (Fig. 1) with poorly developed maxillary bones, and ectropion of the lower eyelids. The ears (length 6.5 cm) are normally shaped and in normal position with adherent lobuli. The postaxial limb deficiencies are symmetrical (Fig. 2) with absence of the fifth digital rays in both the upper and lower limbs. In addition there is ulnar deviation of the second fingers, absence of the distal interphalangeal creases (Fig. 3), and relatively broad halluces. An X-ray skeletal survey did not show additional skeletal abnormalities. Genital development and secondary sexual characteristics are normal. Intelligence and social integration and functions are equally normal. Prometaphase chromosome studies (G-banding) showed a 46,XY normal chromosome constitution.

DISCUSSION

This adult man presents a unique pattern of congenital anomalies with mild midface hypoplasia with poorly developed malar regions, cleft soft and hard palate, and symmetri- cal postaxial limb deficiencies with absence of the fifth digital rays on hands and feet.

In 1979 Miller et a1 described the same malformation syndrome in 2 nonrelated patients and reviewed 3 other patients previously independently reported by Smith et a1 [ 19751. In the literature they found a similar patient reported by GenCe [ 19691. These 6 patients all presented an acrofacial malformation syndrome with predominantly postaxial ray deficiencies and facial changes, best defined as a Treacher-Collins-like face. Cleft

Fig. 2. a, b Symmetrical and bilateral absences of the fifth digital rays.

Fig. 3. Absence of the distal interphalangeal flexion creases and ulnar deviation of the second finger.

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lip/cleft palate was found in 4 of the 6 patients. As in the 3 patients on whom extensive data are available [Miller et al, 19791, growth and intellectual performance are normal in our patient. Accessory nipples, found in 4 of 6 previously reported cases, were not present in this patient. As in Treacher-Collins patients the degree of craniofacial involvement may vary from patient to patient with differences in severity of eye and ear malformations.

The present patient confirms the existence of a distinct postaxial acrofacial dysostosis syndrome with a Treacher-Collins-like face, cleft lip/cleft palate and postaxial limb deficiencies. In contrast with this entity, Nager type of acrofacial dysostosis associates similar facial changes with preaxial deficiencies, most frequently hypoplasia or absence of thumbs and/or radius.

As discussed by Miller et a1 [ 19791 the etiology of this condition remains obscure. Chromosome studies have been normal in all examined patients (4 out of 8), and all cases were sporadic with negative family history.

Fryns and Van den Berghe

REFERENCES

Genie E (1969): Une forme extensive de dymtose mandibulofaciale. J G6n6t Hum 17:4548. Miller M, Fineman R, Smith DW (1979): Postaxial acrofacial dysostosis syndrome. J Pediatr 95:970-975. Smith DW, Pashayan H, Wildervanck LS (1975): Case report 28. Syndrome Identification 3:7-9.

Edited by James F. Reynolds