Peters anomaly with post axial polydactyly, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia, and club foot in an Indian neonate: A case report

A case of Peters anomaly with bilateral post axial polydactyly, convex soles, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia and club foot was examined in a neonatal Indian baby girl who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There were no cases of Peters anomaly recorded in India according to a literature search. In addition, available data point to the majority of the principal associations in Peters anomaly to be genitourinary anomalies, making this case a rare one in its isolated collection of musculoskeletal associations. A Indian baby girl of who was born through a Cesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral polydactyly, camptodactyly and club foot. This is a rare case of Peters anomaly and its association with Patau syndrome makes it special

Bilateral ocular coloboma associated with nonsyndromic cleft lip and palate / 国际眼科杂志(Guoji Yanke Zazhi)

·The authors describe a 2-month-old boy with nonsyndromic cleft lip and palate. On examination, he had bilateral inferior iris colobomas, vitreous veils, optic disc and choroid colobomas. Magnetic resonance imaging(MRI) revealed bilateral colobomatous microphthalmia, retrobulber cysts and thinned optic nerves. Every infant with cleft lip and palate should be examined by an ophthalmologist to detect possible associated ocular abnormalities.

Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3).

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient.