Clin Genet 1993: 43: 270 Printed in Denmark . All rights reserved Copyright 0 Munksgaard 1993 CLINICAL GENETICS ISSN 0009-9163 Letter to the Editor Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a fady confirmation of autosomal recessive inheritance I Clin Genet 1993: 43: 270. 0 Munksgaard, 1993 Miller postaxial acrofacial dysostosis syndrome is a multiple congenital anomalies syndrome with a distinct association of facial and limb anomalies, i.e. malar hypoplasia, ectropion, micrognathia, cupped ears and absence of the fifth digital rays of the four limbs with or without associated anomalies of the forearms (Miller et al. 1979). In a previous report in this journal, we presented two unrelated patients and documented the variability of the facial and limb anomalies. We further con- cluded that “the mode of inheritance of the postaxial dysostosis syndrome is still uncertain” (Chrzanowska et al. 1989). We had the opportunity to follow the second patient of this report and his family. The index patient, the first child of young, healthy, parents is now 7 years old. Growth and intellectual devel- opment are normal and the boy attends a regular school. The second pregnancy of his parents ended spontaneously in preterm delivery at 31 weeks of gestation, with the birth of twin boys. Both presented the same postaxial limb deficiency in the form of absence of the fifth digital rays of all four limbs. The first twin male (weight 1600 g - length 40 cm) died on the second day from respiratory insufficiency. The second twin (weight 1400 g - length 40 cm) died 2 h after birth; besides prema- turity and limb abnormalities, acrania-anencephaly was present with exophthalmos, flat nose and low- set ears. No autopsy could be performed. The present observation proves the autosomal recessive inheritance of this syndrome, as was sug- gested by the earlier reports of Fineman (198 1) and Opitz & Stockler (1987) documenting the occur- rence of the syndrome in two pairs of siblings, and by the recent observations of Ogilvy-Stuart et al. (1991). and Received 2 8 December, accepted for publication I 29 December 1992 A number of associated anomalies such as super- numerary vertebrae, cervical ribs, congenital heart defects and extra nipples have been reported pre- viously. We could, however, not find reports of neural tube defects being part of the spectrum of this syndrome. Alternatively, according to Schin- zel’s observation that the malformations in monozygotic twins were predominantly early defects, among which a high frequency of anencephaly was noted (Schinzel et al. 1979), the acrania/anencephaly in one of the present twins may only be a consequence of the process of twinning. Kristina Chrzanowska Jean-Pierre Fryns References Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Wisniews- ki L, Van den Berghe H. Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients. Clin Genet 1989: 35: 157-160. Fineman RM. Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. J Pediatr 1981: 98: 87-88. Miller M, Fineman R, Smith DW. Postaxial acrofacial dystosis syndrome. J Pediatr 1979: 95: 970-975. Ogilvy-Stuart AL, Parsons AC. Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. J Med Genet Opitz JM, Stickler GB. Letter to the Editor. The GenCe-Wiede- mann syndrome, an acrofacial dysostosis - further observation. Am J Med Genet 1987: 27: 971-975. Schinzel AAGL, Smith DW, Miller JR. Monozygotic twinning and structural defects. J Pediatr 1979: 95: 921-930. 1991: 28: 695-700. Correspondence: Centre for Human Genetics Herestraat 49 B-3000 Leuven Belgium 270

Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance

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Page 1: Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance

CLINICAL GENETICS ISSN 0009-9163

Letter to the Editor

Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a f a d y confirmation of autosomal recessive inheritance I Clin Genet 1993: 43: 270. 0 Munksgaard, 1993

Miller postaxial acrofacial dysostosis syndrome is a multiple congenital anomalies syndrome with a distinct association of facial and limb anomalies, i.e. malar hypoplasia, ectropion, micrognathia, cupped ears and absence of the fifth digital rays of the four limbs with or without associated anomalies of the forearms (Miller et al. 1979). In a previous report in this journal, we presented two unrelated patients and documented the variability of the facial and limb anomalies. We further con- cluded that “the mode of inheritance of the postaxial dysostosis syndrome is still uncertain” (Chrzanowska et al. 1989).

We had the opportunity to follow the second patient of this report and his family. The index patient, the first child of young, healthy, parents is now 7 years old. Growth and intellectual devel- opment are normal and the boy attends a regular school. The second pregnancy of his parents ended spontaneously in preterm delivery at 31 weeks of gestation, with the birth of twin boys. Both presented the same postaxial limb deficiency in the form of absence of the fifth digital rays of all four limbs. The first twin male (weight 1600 g - length 40 cm) died on the second day from respiratory insufficiency. The second twin (weight 1400 g - length 40 cm) died 2 h after birth; besides prema- turity and limb abnormalities, acrania-anencephaly was present with exophthalmos, flat nose and low- set ears. No autopsy could be performed.

The present observation proves the autosomal recessive inheritance of this syndrome, as was sug- gested by the earlier reports of Fineman (198 1) and Opitz & Stockler (1987) documenting the occur- rence of the syndrome in two pairs of siblings, and by the recent observations of Ogilvy-Stuart et al. (1991).

and

Received 28 December, accepted for publication I 29 December 1992

A number of associated anomalies such as super- numerary vertebrae, cervical ribs, congenital heart defects and extra nipples have been reported pre- viously. We could, however, not find reports of neural tube defects being part of the spectrum of this syndrome. Alternatively, according to Schin- zel’s observation that the malformations in monozygotic twins were predominantly early defects, among which a high frequency of anencephaly was noted (Schinzel et al. 1979), the acrania/anencephaly in one of the present twins may only be a consequence of the process of twinning.

Kristina Chrzanowska Jean-Pierre Fryns

References

Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Wisniews- ki L, Van den Berghe H. Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients. Clin Genet 1989: 35: 157-160.

Fineman RM. Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. J Pediatr 1981: 98: 87-88.

Miller M, Fineman R, Smith DW. Postaxial acrofacial dystosis syndrome. J Pediatr 1979: 95: 970-975.

Ogilvy-Stuart AL, Parsons AC. Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. J Med Genet

Opitz JM, Stickler GB. Letter to the Editor. The GenCe-Wiede- mann syndrome, an acrofacial dysostosis - further observation. Am J Med Genet 1987: 27: 971-975.

Schinzel AAGL, Smith DW, Miller JR. Monozygotic twinning and structural defects. J Pediatr 1979: 95: 921-930.

1991: 28: 695-700.

Correspondence: Centre for Human Genetics Herestraat 49 B-3000 Leuven Belgium

270