Partial trisomy 15: a rare occurrence

Partial trisomy 15q is a very rare entity and most of them are characterized by duplication of regions 15q21-15q26.3. This duplication is frequently associated with deletions in another chromosome resulting in unbalanced translocations. Authors report here, a rare case of partial trisomy 15, with breakpoints between 15q11.1 to q23, probably the first reported case with these breakpoints. Irrespective of the breakpoints, the phenotypic features are consistent in all affected cases and predominantly consist of craniofacial anomalies. In addition, finger abnormalities, very short neck, skeletal malformations and congenital heart disease may be present. Our neonate had typical dysmorphic features of arachnocamptodactyly, narrow face, large prominent, nose with broad nasal bridge, long philtrum, pointed chin, short neck, and low set deformed ears.' Neonates' cytogenetic analysis revealed additional chromosomal material on the long arm of the chromosome 15 from q11.1 to q23.1, which was suggestive of partial trisomy of chromosome 15. Most cases reported have had a stormy clinical course, however, our proband had only mild respiratory distress at birth and she was discharged in a few days.

Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.