Dr.Divya Kishore, D17623
In a family of 3 sons and 3 daughters, no consanguinity,only daughters aged 3, 11, 14 years were affected, the inheritance came closest to sex linked dominant with? Mosaicism. Conjugate horizonal gaze was absent with retention of convergence and vertical gaze in 11 and 14 years old. Youngest 3 years old had gross hypotonia with overlapping features of HGPPS and CFEOM1. All had scoliosis to right. Anisocoria, iris hypoplasia and fundus intorsion both eyes were noted. MRI brain showed pontine hypoplasia, absent facial colliculi, butterfly pattern of medulla and tenting of 4rth ventricle floor. Linkage analysis at Engle’s lab at Boston did not reveal any ROBO3 mutation. Sporadic case, a 16 years old female also had similar features with superadded accommodative esotropia due to high hypermetropia. For HGPPS, 24 mutations have been reported till now on ROBO 3 on chromosome 11. HGPPS may sport sex linked dominant inheritance, may share features of CFEOM. HGPPS is not reported from India.
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