Pena-Shokeir I Syndrome in a Newbonrn Infant

Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait. We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory destress was not relieved after ventilatory care. He died aged 10 days. We report this case with brief review of literature.

Herditary Anhidrotic Ectodermal Dysplasia in Twins

Hereditary anhidrotic ectodermal Dysplasia is a congenital disease displaying characteristics of anhidrosis, hypotrichosis and dental defect which are caused by developmental anomaly of ectodermal epidermis and its appendages. We experienced two cases of hereditary anhidrotic ectodermal dysplasia in two-year and four-month old twin brothers. These patients suffered from intermittent high fever early in life which brought them to our clinical attention. However the diagnosis of anhidrotic ectodermal dysplasia was not suspected by means physicians who cared the patients previously. The diagnosis was made on the basis of clinical features, and confirmed by starch iodine sweat test and skin biopsy on the palm and axilla. We report the two cases in a twin brothers with brief review of related literatures.