4 research outputs found
Neu-Laxova syndrome in an appropriate for gestational age newborn
Neu-Laxova syndrome is a rare lethal congenital disorder involving
multiple systems. Intrauterine growth retardation, ichthyosis,
microcephaly, abnormal facial findings, and limb contractures are its
key features. We present a case of Neu-Laxova syndrome in a male
appropriate for gestational age (AGA) newborn with characteristic
features including ichthyosis, microcephaly, severe ectropion,
rudimentary ears, eclabion, limb contractures, and hypoplastic
genitalia. The patient was born at 38 weeks of gestation to
consanguinous Turkish parents. The mother was a 20-year-old primi
gravida with lack of prenatal follow-up. Therefore, the case was
diagnosed postnatally, and he died 5 days later. Because of the
autosomal recessive inheritance of Neu-Laxova syndrome, in countries
with high rates of consanguineous marriage, such as Turkey, physicians
have to know this syndrome, and serial prenatal ultrasound examinations
with genetic counseling should be performed on pregnant women at high
risk. To the best of our knowledge, this is the first case described in
an AGA newborn