Tetrapolydactyly and Hydrocolpos in an Infant: Neuroimaging Gives Clue to the Diagnosis

An 8-month-old girl, second born to third-degree consanguineous parents, was brought with complaints of failure to thrive and global developmental delay.She has a bidextrous reach, cannot roll over, cannot sit without support, and does not babble; however, a social smile was present.Birth history was uneventful.After birth, she was noticed to have polydactyly, hydronephrosis, and hydrocolpos (Type-III) secondary to vaginal atresia, for which tube vaginostomy was done.The syndromic evaluation was not done at the time of birth.There was no history of seizures.Examination revealed weight (5 kg: <3 rd percentile; birth weight: 3.5 Kg), height (63 cm; <3 rd percentile), head circumference (42 cm: 15 th percentile), no facial dysmorphism, hypotonia, normal external genitalia, and post-axial polydactyly type-A in all the four limbs [tetrapolydactyly/ polydactyly 24: Figure 1].Neuroimaging showed a giant hypothalamic hamartoma anteriorly abutting the optic chiasma,