Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling.

Chromosomal mosaicism for full aneuploidy involving chromosome 9 is an uncommon chromosomal abnormality. Mosaic trisomy 9 clinical manifestations are highly variable and difficult to predict. The authors present a case of mosaic trisomy 9 with typical clinical manifestations(facial dysmorphism, various internal organ malformations and severe psychomotor retardation), pigmentary mosaic skin lesions along the lines of Blaschko and evidence of maternal uniparental disomy in skin.

PHACE/S syndrome: a syndromic infantile segmental hemangioma.

PHACES syndrome is a neurocutaneous disorder characterized by posterior fossa brain malformations, hemangiomas, cardiac anomalies and coarctation of aorta, eye anomalies ± sternal clefts. All reported cases are sporadic and notably common in females. The underlying cause is unknown. Here is described, one of the twin baby with characteristic features of PHACE syndrome. The presence of large segmental hemangioma, especially on face should prompt the primary care provider to act early, to prevent complications related to facial hemangiomas and other associated anomalies.

Spondylocarpotarsal synostosis: a rare case of vertebral segmentation defect.

Spondylocarpotarsal synostosis (SS) is a disorder of abnormal vertebral segmentation. Clinically manifest as kyphoscoliosis/scoliosis with characteristic radiographic findings vertebral, carpal and tarsal bone fusion. It is inherited as an autosomal recessive disorder. The present study report a case of SS and describe the clinical and radiological manifestations. In addition to classical signs, neuroimaging revealed cervical spine abnormalities, further supporting the importance of spine imaging in such cases.