Escobar syndrome with heterotaxia and esophageal atresia: case report.

Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. We describe an 8-days-old male newborn from consanguineous parents with ES who also presented heterotaxia syndrome and esophageal atresia, anomalies that not have been previously reported as associated to ES.

Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum.

The Meier-Gorlin syndrome (MGS) or ear, patella, short stature syndrome (MIM #224690) is a rare disorder with bilateral microtia, aplasia or hypoplasia of the patellae and severe intra-uterine and post-natal growth retardation. We report the case of a 10-year-old male with MGS diagnosis, his parents were related, he also showed conductive hearing loss and maloclussion and long upper central incisors, more importantly he had asymmetry of the left cerebral hemisphere and ventricular system, his intelligence was normal. As far as we know, these abnormalities have not been previously described in patients with MGS and the present report corresponds to the first Mexican case described so far.

Preoperative ultrasonographic diagnosis of a parathyroid adenoma in a child.

The case of a young boy with primary hyperparathyroidism due to an adenoma is reported. The tumor was localized by ultrasonography, and a close correlation between the image and the surgical findings was found. Since primary hyperparathyroidism in children under 15 years of age is frequently due to adenomata larger than 1.