We have diagnosed a further case of the Neu-Laxova syndrome, probably belonging to group I1 according to Curry's classification [Curry, 19821. In June 1981 the mother of the affected child came to our center for genetic counseling. She was pregnant for the third time; in 1972 her second pregnancy had ended in the delivery of a malformed child. The affected child died in a provincial hospital 4 days after delivery.
We asked the hospital to provide us with available data on the child, and we received clinical data, autopsy findings, and photographs from Dr. R. Rudolf.
The malformed child was born on October 6, 1972; except for reduced fetal movements the first two trimesters had been uneventful. The mother was admitted for 4 days during the 7th month of pregnancy because of a short episode of uterine bleeding. Breech delivery occurred at 36 weeks. According to the mother the placenta was "small" and the umbilical cord "short," but no measurements are available. Birth weight was 1,680 g, length 40 cm; head circumference was not measured. Sex was undetermined, as external genitalia were ambiguous. The first impression of the obstetrician was that the child was stillborn with macerated skin. However, one minute later, the infant began to breathe spontaneously. The child was small for gestational age and had microcephaly with slanting forehead, hypertelorism, short and underdeveloped eyelids, apparently lowset, large and malformed ears, a severe ichthyosis with large thick scales, and marked swellihg of hands and feet with hypoplastic digits and toes (Fig. 123). The child failed to thrive and died on day 4.
Unfortunately, no skeletal roentgenograms were obtained. No malformations of inner organs were found at autopsy; however, it was impossible to determine sex grossly or histologically. Genital ducts "seemed to be female," but histology of gonads was "uncertain. " Cultivation of peripheral blood for chromosome studies was unsuccessful; both parents had normal chromosomes.
From the clinical data and photos we were able to make a probable diagnosis of the Neu-Laxova syndrome, probably belonging to subgroup I1 as classified by Curry [1982] on the basis of the limb anomalies; however, ichthyosis was very severe.
At the time of birth of the affected child father and mother were 25 and 23 years old, respectively; their families were large, healthy and unrelated but endogamic,