American Journal of Medical Genetics 31:701-703 (1988)

Letter to the Editor

Postaxial Acrofacial Dysostosis Syndrome With Microcephaly, Seizures and Profound Mental Retardation

To the Editor:

With reference to the discussion on the postaxial acrofacial dysostosis syndrome (POADS) in this journal [Meinecke and Wiedemann, 1987; Opitz and Stickler, 1987; Robinow et al., 19871, we present a patient with postaxial oligodactyly and facial abnormalities consisting of coloboma of the lower eyelid, unilateral aplasia of the lacrimal ducts, median cleft palate, and micrognathia. In contrast to all but one reported patient with POADS [Wiedemann, 19731, he also has microcephaly, sei- zures, and profound mental retardation.

The patient (SDa 061183/84E1341) is a 3-year-old white boy (Fig. 1) with profound mental retardation. He cannot sit without support, crawl, or hold toys. His clinical signs and symptoms are listed in Table I and compared to those of other patients with postaxial acrofacial dy sostosis syndrome.

He was born at term by vacuum extraction because of cardiac arrhythmia, with a birth weight of 3,700 g, length of 53 cm, and occipitofrontal head circumference of 33.5 cm. Apgar scores (6/8/10) and umbilical P H , ~ (7.14) suggested perinatal hy- poxia. The pregnancy had been uneventful, without maternal exposure to drugs, alcohol, or nicotine. His 21-year-old healthy, nonconsanguineous parents have an unremarkable family history.

At age 8 weeks he suffered an apneic episode or seizure when he was found cyanotic and required intensive resuscitation. Antiepileptic therapy has been needed since then.

We first saw the patient at age 9 months for diagnostic evaluation and the parents for genetic counseling.

We do not know whether our patient’s profound mental retardation is part of the disorder or should be attributed to perinatal or early postnatal hypoxia. Because severe mental retardation was also present in the patient reported by Wiedemann [1973], we agree with Opitz and Stickler [I9871 that mental retardation can be a feature of FQADS. This possibility should be taken into consideration when counsel- ing parents of a child with this syndrome.

Received for publication February 16, 1988; revision received May 10, 1988.

Address reprint requests to Dr. Hannelore Hauss-Albert, Institut f i r Hurnangenetik, Hufelandstr. 55, D4300 Essen-1, Federal Republic of Germany.

0 1988 Alan R. Liss, Inc.

702 Hauss-Albert and Passarge

Fig. 1. Patient SDa, age 3.

TABLE I. Features of Patient SDa, Compared With Reported Cases of Postaxial Acrofaeial Dysostosis Syndrome (POADS)*

Feature SDa POADS

Sex M 8M:4F Performance

Mental retardation + 119 - Epileptic seizures +

Craniofacial abnormalities Microcephaly Midface hypoplasia Micrognathia

Small palpebral fissures Antimongoloid slant Coloboma of lower eyelid

Apparently low set Dysplastic “Cup shaped”

Small tongue Median cleft palate

Skeletal abnormalities Mesomelic arms and legs Absence of 5th ray only

Eyes

Ears

Mouth

+ + +

+ + +

+ + -

+ +

+ +

10112 11111

519 619 8/10

411 1 11112 511 1

- 10112

919 12/12

Defects of urogenital system + 515 Inheritance ? A-R

*Data based on Donnai et al. [1987], Finernan 119811, Genee [1969], Meinecke and Wiedemann 119871, Miller et al. [1979], Opitz and Stickler [1987], Wiedemann [1973].

POADS With Profound Mental Retardation 703

REFERENCES

Donnai D, Hughes HE, Winter RM (1987): Postaxial acrofacial dysostosis (Miller) syndrome. J Med

Fineman RM (1981): Recurrence of postaxial acrofacial dysostosis syndrome in a sibship: Implications

Genee E (1969): Une forme extensive de dysostose mandibulo-faciale. J Genet Hum 17:45-52. Meinecke P, Wiedemann HR (1987): Letter to the Editor: Robin sequence and oligodactyly in mother

and son-Probably a further example of the postaxial acrofacial dysostosis syndrome. Am J Med Genet 27:953-956.

Miller M, Fineman R, Smith DW (1979): Postaxial acrofacial dysostosis syndrome. J Pediat 95:970- 975.

Opitz JM, Stickler GB (1987): The Genke-Wiedemann syndrome, an acrofacial dysostosis-further observation. Am J Med Genet 27:971-975.

Robinow M, Johnson GF, Apesos J (1987): Reply to Drs. Meinecke and Wiedemann. Am J Med Genet 27:957.

Wiedemann HR (1973): Missbildungs-Retardierungs-Syndrom mit Fehlen des 5 . Strahls an Handen und FuRen, Gaurnenspalte, dysplastischen Ohren und Augenlidern und radioulnarer Synostose. Klin Padiat 185: 181-186.

Genet 24:422425.

for genetic counseling. J Pediatr 98:87-88.

Hannelore Hauss-Albert Eberhard Passarge Institut j i r Humangenetik Universitatsklinikum Essen Federal Republic of Germany

Edited by John M. Opitz and James F. Reynolds