Malformations of the external ear are frequently observed in clinical practice, usually as an isolated finding without any significant family history. In 1937, Potter reported a five generation pedigree in which 22 people were affected with a cup-shaped ear deformity or 'cat's ear' (Potter, 1937). Subsequently, three other families with similar anomalies have been recorded (Grotting, 1958; Rome...

Stickler syndrome (SS) is an autosomal dominant inherited genetic disorder that presents with hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis well known be associated rhegmato-genous retinal detachments. A particular group of physical features called Pierre Robin sequence also common in people stickler syndrome. includes glossoptosis, micrognathia. We ...

Ischiospinal Dysostosis (ISD) is a complex and very rare medical entity. It is associated with kyphoscoliosis, dysplasia or aplasia of the ischial rami, segmental anomalies of the bony vertebrae, and peculiar facial morphologies. In this case report, we present a child with Ischiospinal Dysostosis and Pierre-Robin Syndrome. This case report is unique as we followed the patient for 13 years in w...

RESULTS: 300 patients averaging 12.3 months were included. Cleft distribution included: Submucosal-1%, Veau 1–17.3%, Veau 2–38.3%, Veau 3–30.3%, Veau 4–13.0%. Pierre Robin (N=43) was the most prevalent syndrome/anomaly. 83% of patients received paralytic reversal and total narcotic dose averaged 0.19 mg/kg. 69 patients (23.0%) had an A.P.E., most frequently hypoventilation (10%) and airway obst...

RESULTS: 300 patients averaging 12.3 months were included. Cleft distribution included: Submucosal-1%, Veau 1–17.3%, Veau 2–38.3%, Veau 3–30.3%, Veau 4–13.0%. Pierre Robin (N=43) was the most prevalent syndrome/anomaly. 83% of patients received paralytic reversal and total narcotic dose averaged 0.19 mg/kg. 69 patients (23.0%) had an A.P.E., most frequently hypoventilation (10%) and airway obst...

Congenital cervico-thoracic kyphosis has been encountered in a girl with Pierre Robin sequence. The constellation of the spine malformation complex such as incomplete development of the vertebral bodies associated with defective ossification of the cervico-thoracic pedicles causing effectively the development of complete spinal cord injury at the kyphotic level of C7/T1 were present. Congenital...