THE SYNDROME
Main manifestations. Absence of distal phalanges and nails of all fingers and toes. Renal (cystic dysplasia) and cerebral (dilated right ventricle) anomalies.
Prenatal history. Uncomplicated pregnancy. No medication. Ultrasound at 32 weeks normal.
Birth history. Male infant born at term. Cesarean section, anticipating sterilization. BW 3.9 kg, length 51 cm, head circumference 37 cm. Apgar score 7/8/9 at 1, 5, and 10 minutes, respectively. Only two vessels in umbilical cord.
Neonatal history. Low-set ears, high, narrow palate, hyperplasia of gums, absent nails, malformed fingers and toes noted at delivery. Marked muscular hypotonia. Cyanosis and difficult breathing at 2 days. A 2/6 precordial systolic murmur noted and digitalis administered because of cardiac insufficiency. Convulsions from day 10, antiepileptic medication started.
Family history. G 13 P 6, 33-year-old mother. Seven spontaneous abortions at 9-17 weeks gestation. Macerated fetuses found in four pregnancies. Both parents from same isolated area in Finland, not known to be related. Eldest brother operated on at 12 days because of intestinal malrotation. Recovered but died at 2 years from volvulus and gangrene of small bowel. No other malformations detected at autopsy.
Two first cousins with defects similar to those in our patient died; they were also double second cousins of our patient (Fig. ). Female cousin (III,20) born at term after uneventful pregnancy, BW 3.2 kg, length 49 cm, head circumference 32 cm, apgar score 9. Microencephaly, muscular hypotonia, low-set ears, and absence of distal phalanges and nails of fingers and toes. Convulsions at 10 hours, treatment started. Melena as newborn, neurologic retardation, hip dislocation and recurrent urinary tract infection. Died at 2 years in epileptic seizure. No autopsy.