Neu–Laxova Syndrome

A 36-week-old infant girl was born to a G1P1 mother.Prenatal ultrasound showed intrauterine growth retardation and decreased fetal movement.At birth the infant was noted to be small for her gestational age, with weight, height, and head circumference all below the 10th percentile.Family history revealed no known consanguinity.Dermatology was consulted due to the presence of a partial collodion membrane.On examination, the membrane was translucent, yellow, and involved the face, neck, and trunk (Fig. 1).Microcephaly, a short neck, and a dysmorphic facies were also noted (Fig. 2).The infant had a sloping forehead, large protuberant eyes, apparent hypertelorism, micrognathia, and low-set ears.No ectropion or eclabium was present.At birth, edema of the feet and lips was noted, but had since resolved.She also had partial syndactyly of the second and third toes, overlapping digits, a palmar crease, and clenched hands with fingers wrapped around the thumb (Fig. 3).A complete blood count was unremarkable.Radiographic survey confirmed the presence of microcephaly.No structural abnormalities were noted on a computed tomography (CT) scan of the head.Ultrasound examination of the head was limited due to a small fontanelle, but revealed bilateral choroid plexus cysts.Ophthalmologic examination was significant for the presence of bilateral cataracts.Trichogram was unremarkable.Karyotype showed the infant to be a normal 46,XX female.A skin biopsy specimen taken from the trunk showed thick, compact hyperkeratosis with a normal granular