Orofaciodigital syndrome type-VI (Varadi–Papp syndrome) with several Y-shaped metacarpals
A 17-day-old girl was admitted with chief complaint of episodic respiratory distress noted since the second day of her life. The baby was born out of nonconsanguinous marriage, by normal delivery at term, to a primigravida mother with an uneventful pregnancy, and cried immediately after birth. There was no maternal history of teratogenic drug or radiation exposure. No antenatal ultrasonography was done. After her birth (weight 2000 g) in a rural hospital, congenital malformations were first noted. The family history was negative for congenital anomaly and mental retardation. On admission her weight was 1750 g (SGA), length 42 cm (<5th centile), OFC 32 cm (<5th centile), and respiratory rate was 42/min with episodic panting type of respiration, with rate up to 100/min lasting for 1-3 minutes, followed by apnea for 12-15 s without bradycardia or cyanosis. In addition, physical examinations revealed posteriorly rotated low set ears, prominent upper forehead, sublingual nodules, bimanual heptadactyly, bilateral hallucal polysyndactyly, and an accessory right postaxial toe, coarse crepitations on the right chest, and generalized hypotonia with diminished deep tendon jerks. Neonatal reflexes were depressed. The other findings were unremarkable and fundoscopic examination was normal. The following investigations were done and found to be normal-routine blood and urine, serum CRP, blood sugar, blood urea, SGPT, serum calcium, X-rays of pelvis and skull, abdominal ultrasonography, and echocardiography [Figures and ]. Radiography of chest revealed pneumonitic changes in the right mid- and upper zones. X-ray of the hands showed y-shaped right third, left fourth and left fifth metacarpals with bimanual central polydactyly, a right postminimus, and a left postaxial extra digit. In addition, X-ray revealed short middle phalanx of all fingers. X-rays of the feet showed duplication of the first metatarsal and hallucal phalanges, an extra epiphysis in the soft-tissue hallux between normal and accessory bony hallux and syndactyly of first three toes, bilaterally. MRI of brain demonstrated a hypoplastic cerebellar vermis with a molar tooth sign (which consists of deepened interpeduncular fossa, thickened superior cerebellar peduncles and hypoplasia of cerebellar vermis) on axial image at the level of the isthmus. The diagnosis was reached based on clinicoradiological findings. She was treated conservatively and episodic tachypnea-apnea gradually decreased at 1 month of age. The child was then discharged and advised to seek regular follow-up for further evaluation and possible supportive interventions. Although advised, VEP and BAER test were not carried out. A chromosomal study (conventional G-banding) showed a normal karyotype (46, XX). At 2½ months of age, examination revealed growth failure (weight 2500 g), feeding difficulty, hypotonia, absent social smile, poor visual fixation and occasional episodic tachypnea.