Anophthalmia with cleft palate and micrognathia: a new syndrome?

Anophthalmia with cleft palate and micrognathia: a new syndrome?

A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cy...

Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

Kabuki Syndrome with Cleft Palate

Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this...

cloverleaf skull syndrome associated with cleft palate

purpose: to report a case of cloverleaf skull syndrome with cleft palate. results: we report a 20-day-old boy with cloverleaf-shaped skull deformity, very constricted cranium and prominent temporal bones associated with severe proptosis, maked lid retraction, conjunctival chemosis, exposure keratitis, corneal opacity and cleft palate. ct-scan dislosed fusion of the coronal, sagittal and lambdoi...

Beckwith-wiedemann Syndrome with Cleft Palate

BECKWITH-WIEDEMANN SYNDROME WITH CLEFT PALATE (ABSTRACT): BeckwithWiedemann syndrome is a rare congenital disorder. Early diagnosis, proper counselling of parents is essential because of significant risk of subsequent development of malignant tumours, associated with this syndrome. Association of cleft palate in this syndrome is extremely rare. Specific difficulties and risks posed by the crani...