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Frank–ter Haar syndrome : ウィキペディア英語版
Frank–ter Haar syndrome
Frank–ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is a rare disease characterized by abnormalities that affect bone, heart, and eye development. Children born with the disease usually die very young.
==History==
In 1973, researchers led by Dr. Yitzchak Frank, most recently at Mount Sinai Hospital in New York, described an 18-month-old Bedouin girl, born to consanguineous parents, who presented with enlarged corneas, multiple bone abnormalities, and developmental delay. In 1982, Dutch pediatrician Dr. Ben ter Haar reported on three similar patients thought to have Melnick–Needles syndrome. Over the next twenty years, several more similar cases were identified and eventually attributed to a new disorder, now called Frank–ter Haar syndrome. FTHS is distinguished from other similar conditions based on its pattern of inheritance and association with congenital glaucoma and congenital heart disease.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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