The Neu-Laxova Syndrome is a rare lethal syndrome, inherited as an
autosomal recessive trait characterized by severe intrauterine growth
retardation, perinatal death, microcephaly, apparent edema and thick
scaly skin. A stillborn male baby was a product of a non consanguineous
marriage, delivered at 32 weeks gestation vaginally to a multiparous
woman, who had polyhydramnios. The baby weighed 1 kg. The baby had
microcephaly, slanting forehead, absent eye lids, micrognathia,
bilateral cleft lip and cleft palate. Baby also had multiple
contractures, hypoplasia of all the digits, swollen
feet and hands. The skin was thickened over the entire body with a waxy
consistency (Fig. 1). Abnormal development of the head, along
with severe growth retardation, thickness of the skin and polyhydramnios
could be important elements for prenatal diagnosis in an at risk
pregnancy.
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Fig. 1.
Stillborn baby with features of Neu-Laxova
Syndrome. |
Shreedhara A vabratha K.,
Sulochana P.,
Somegowda*,
Departments
of Pediatrics and
*Obstetrics and Gynecology,
Vijayanagara Institute of Medical Sciences,
Bellary
583 101.
Karnataka.
India.
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