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Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin. Signs and symptoms
Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. [2] The scalp is the most commonly involved area with lesser involvement of trunk and extremities.
Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails.
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia. [1] [2] It has been described in two Ashkenazi Jewish brothers. [3] [4]
This condition is also known as Brauer syndrome (hereditary symmetrical aplastic nevi of temples, bitemporal aplasia cutis congenita, bitemporal aplasia cutis congenita: OMIM 136500) and Setleis syndrome (facial ectodermal dysplasia: OMIM 227260).
On Feb. 7, 2022, baby Soren was born — surprising doctors and medical staff by breathing on his own without the help of oxygen. "Besides his heart, he was a perfectly healthy baby boy," Morgan says.
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. [1] Other findings include congenital nystagmus , atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus . [ 2 ]
Fourteen members of a small religious sect in Australia have been found guilty of the manslaughter of an 8-year-old girl, who died after they withheld insulin needed to treat her diabetes because ...