A newborn with Beals syndrome

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Authors: Leslye Green and David Lesser
Date: June 2006
From: Southern Medical Journal(Vol. 99, Issue 6)
Publisher: Southern Medical Association
Document Type: Article
Length: 1,282 words
Lexile Measure: 1890L

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Abstract: We present the case of a newborn with multiple connective tissue abnormalities. Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly). A viable-term male infant was delivered to a healthy 30-year-old. The parents had no known history of familial birth defects. After delivery, it was noted that the infant could not extend either elbow past 90[degrees]. Further examination revealed a crumpled helix of the ear, ulnar deviation of the fingers, campylodactyly, and hyperextensible ankles. Further questioning revealed that the mother also had hyperflexible wrists and ankles, and several dislocations of both patellae in childhood. She never received a diagnosis or treatment for her condition. A careful examination of newborn deformities and extensive history-taking from the parents can reveal previously unknown genetic traits. Thus, initiating early screening and intervention can positively impact a child's future.

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

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We present a case of a newborn male found to have elbow contractures (Fig. 1) which limited his passive extension to 90[degrees]. This finding provoked a more careful examination which revealed several other connective tissue abnormalities including crumpled ear (Fig. 2), ulnar deviation of fingers (Fig. 3), campylodactyly (Fig. 4), and ankles which could be dorsiflexed to the shin (Fig. 5). Upon questioning the mother, she revealed that she also had hyperextensible wrists and ankles, and had several dislocations of both patellae in childhood. This history and physical indicated that Beals syndrome, also known as congenital contractural arachnodactyly (CCA), affected them both. By identifying these anomalies and recognizing the genetic predisposition, families can be educated on appropriate therapeutic interventions, including physical therapy and surgery.

Case Report

Our patient, a 30-year-old gravida 1, para 0, presented to the labor and delivery ward at 40 and 1/7 weeks gestational age complaining of spontaneous rupture of membranes approximately four hours earlier. The...

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Gale Document Number: GALE|A148139424