A newborn with Beals syndrome.
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.
Green
Leslye
L
Naval Hospital Pensacola, Family Medicine Department, 6000 West Highway 98, Pensacola, FL 32512, USA. leslye.m.green@pcola.med.navy.mil
Lesser
David
D
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D016216:Ultrasonography, Prenatal