A male neonate was born at term to a 23 year old primigravida with a birth weight 1.2 kg, head circumference 32 cm and length of 42 cm (all <10th percentile). He had dysmorphic features in the form of a high forehead with prominent glabella, beaked nose, hyperteleorism, "widow’s peak" hair-line, anti-mongoloid slant of eyes, low-set ears with preauricular sinus (R), cleft lip with complete cleft palate, carp-like mouth (Fig. 1) undescended testis, penile hypospadias (Fig. 2), bilateral CTEV and a cardiac murmur showed a severe pulmonary stenosis and a large ostium primum ASD. BERA revealed complete left sensorineural deafness. Karyotyping (G-Banding) revealed a 46 XY del (4)(p15-16) karyotype. At 18 months follow up he continued to have severe growth reatardation and weighed 4.5 Kg with a head circumference of 35 cm. There was profound psychomotor retardation. The child had undergave cleft tip repair and balloon valvulotomy for pulmonic sterosis.

Fig. 1. Dysmorphic facies of 4p-Syndrome with repaired cleft lip.

Fig. 2. Penile hypospadias and undersecured testis.

The Wolf Hirschhorn(4P-) syndrome is caused by partial deletion of the short arm of one chromosome 4. It is characterized by dys-morphic facial features, severe growth retardation before and after birth, micro-cephaly with mental retardation and closure defects. Other occasional abnormalities include corpus callosum agenesis, scalp defects, renal hypoplasia, abnormal dermal ridges, sacral and preauricular dimples. Recognition of the syndrome is important in genetic counseling of parents and in deciding the extent of corrective surgery.

Sheila Mathai,
B. B. Ganguly*,
Department of Pediatrics,
INHS Asvini (Naval Hospital),
Colaba, Mumbai 400 005, and
*Speciality Ranbaxy Ltd., Mumbai, India.
E-mail: [email protected]