ABSTRACT
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.
Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Esophageal Atresia/diagnosis , Esophageal Atresia/genetics , Heterotaxy Syndrome/diagnosis , Heterotaxy Syndrome/genetics , Malignant Hyperthermia/diagnosis , Malignant Hyperthermia/genetics , Skin Abnormalities/diagnosis , Skin Abnormalities/genetics , Abnormalities, Multiple/pathology , Consanguinity , Esophageal Atresia/pathology , Fatal Outcome , Fetus/pathology , Genotype , Heterotaxy Syndrome/pathology , Humans , Infant, Newborn , Karyotyping , Male , Malignant Hyperthermia/pathology , Pedigree , Phenotype , Skin Abnormalities/pathologyABSTRACT
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.
Subject(s)
Abnormalities, Multiple/pathology , Cerebral Ventricles/abnormalities , Ear/abnormalities , Growth Disorders/pathology , Micrognathism/pathology , Patella/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Child , Congenital Microtia , Consanguinity , Ear/pathology , Ear/physiopathology , Growth Disorders/genetics , Growth Disorders/physiopathology , Humans , Male , Mexico , Micrognathism/genetics , Micrognathism/physiopathology , Patella/pathology , Patella/physiopathologyABSTRACT
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 1.5 cm it is suggested that ultrasonography of the neck should be included in the work-up of every children suspected to have this pathology.
