Beals syndrome

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Beals syndrome

(belz)

[Rodney K. Beals, U.S. orthopedic surgeon, b. 1931]

Beals,

Rodney Kenneth, U.S. orthopedic surgeon, 1931–.

Beals syndrome - congenital condition resulting in abnormally long hands and fingers and often feet and toes. Synonym(s): arachnodactyly

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IN this week's trip to Temple Street Children's University Hospital, we meet long-term patient Thomas Fleming who was born with Beals Syndrome.

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The differential diagnosis was either severe neonatal MFS, or Beals syndrome.

A very small minority have specific genetic disorders such as the Beals syndrome (congenital contractural arachnodactyly (MIM 121050)) or the Shprintzen-Goldberg syndrome (MIM 182212).

Marfan syndrome in South Africa--a molecular genetic approach to diagnosis

Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly).

Key Words: congenital contractural arachnodactyly, Beals syndrome, "crumpled ear," fibrillin-2 protein

This history and physical indicated that Beals syndrome, also known as congenital contractural arachnodactyly (CCA), affected them both.

Cross-referencing these anomalies with the index in Smith's Recognizable Patterns of Human Malformations indicated Beals syndrome as the likely cause.

6) Other features of Beals syndrome include osteopenia, narrow elongated body habitus, pectus excavatum or cavinatum, muscular hypoplasia, micrognathia, and highly arched palate.

A careful examination of the infant and history from the mother revealed that both were afflicted with Beals syndrome.

Beals syndrome is classified amongst a large group of arthrogryposes, which includes Marfan syndrome.