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RAPADILINO syndrome: A multiple malformation syndrome with radial and patellar aplasia

✍ Scribed by Jam, Kathy; Fox, Michelle; Crandall, Barbara F.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 64 KB
Volume: 60
Category: Article
ISSN: 0040-3709
DOI: 10.1002/(sici)1096-9926(199907)60:1<37::aid-tera10>3.0.co;2-r

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✦ Synopsis

RAPADILINO is an acronym for a rarely described multimalformation syndrome with radial ray, absent or hypoplastic patellae, diarrhea which usually improves with age, skeletal abnormalities including segmental vertebral deformities and dislocations, and short stature (little size) with normal intelligence. The face is dysmorphic with a long thin nose and the palate is high or cleft. Hematologic studies have been normal. Recurrence in one pair of siblings suggests it is most likely inherited as an autosomal-recessive trait. Kaariainen et al. ('89) first reported 5 cases of this syndrome, and a further case was added by Vargas et al. ('92). We present the seventh reported case.

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