Eur J Pediatr (2004) 163: 329–330 DOI 10.1007/s00431-004-1429-6
SHO RT REPOR T
Koen Devriendt Æ Ann Swillen Æ Marc Gewillig Jean-Pierre Fryns Æ Pierre Moens Æ Luc De Smet
Velocardiofacial syndrome presenting as distal arthrogryposis
Received: 10 December 2003 / Revised: 11 February 2004 / Accepted: 12 February 2004 / Published online: 23 March 2004 Ó Springer-Verlag 2004
We report on a child with the velocardiofacial syndrome (deletion in chromosome 22q11.2) presenting with camptodactyly and club feet. This further illustrates the wide variation in clinical expresssion of this syndrome as well as the need to try and reach an aetiological diagnosis in children presenting with multiple joint contractures. The clinical manifestations of the del22q11.2 anomaly (causing the velocardiofacial or DiGeorge syndromes) typically include a conotruncal heart defect, velopharyngeal insufficiency or cleft palate, hypoparathyroidism and thymus hypoplasia, learning difficulties and characteristic facial features. However, these manifestations are highly variable, and in some persons, atypical features may dominate the presentation and thus be misleading. This girl was the first child of healthy, unrelated parents. Family history was unremarkable. She was born at term, after a normal pregnancy with a birth weight of 2840 g (3rd percentile), a length of 47.5 cm (3rd percentile) and a head circumference of 32 cm (3rd percentile = 32.5 cm). At birth, bilateral club feet were noted with adduction of the forefoot and valgus of the hindfoot (Fig. 1). Also, there was bilateral camptodactyly of the 3rd–5th fingers of both hands (Fig. 2A). X-ray films of the feet revealed an increased talocalcanear divergence (>35°), but without evidence of a vertical talus, and adduction of the forefoot. In addition, a perimembranous ventricular septal defect (VSD) was diagnosed, which was surgically corrected at the age of K. Devriendt (&) Æ A. Swillen Æ J.-P. Fryns Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium E-mail:
[email protected] Tel.: +32-16-345903 Fax: +32-16-346051 M. Gewillig Department of Paediatric Cardiology, University Hospital Leuven, Leuven, Belgium P. Moens Æ L. De Smet Department of Orthopaedics, University Hospital Leuven, Leuven, Belgium
Fig. 1 Bilateral club feet at the age of 2 months
2 months. The feeding difficulties, necessitating tube feeding, resolved after this intervention. She had a bifid uvula, retrognathia, and small ears. The combination of a VSD with retrognathia prompted genetic studies: karyotype analysis revealed a normal 46,XX karyotype, but a microdeletion in chromosome 22q11.2 was demonstrated by fluorescent in-situ hybridisation using the probe DO832. At the age of 1 year, height was 70 cm (3rd-10th percentile), weight 7.2 kg (3rd percentile) and head circumference 41.8 cm (3rd percentile is 43.5 cm). The camptodactyly had slightly improved, but she was unable to fully extend the 2nd–3rd fingers, not even passively (Fig. 2B). The club feet were being treated conservatively by means of special shoes. Her motor development was adequate on the Bayley motor developmental scale; mental development was mildly delayed. She was very active and walked with support. The present patient with a del22q11.2 syndrome presented with distal arthrogryposis associated with retrognathia, cleft uvula, and a congenital heart defect (VSD). In the most comprehensive review of limb
330 Fig. 2 Bilateral camptodactyly of the fingers. A Note the slender fingers, with camptodactyly of the fingers 3–5 at age 2 months. B Mild spontaneous improvement observed at the age of 1 year
anomalies in velocardiofacial syndrome [2], both camptodactyly and club feet have been reported. Moreover, there are several other reports of club foot in the del22q11.2 syndrome [1, 3,5]. Therefore, it is unlikely that this represents a chance association; however, the combination of both camptodactyly and club feet has never been reported in a child with a del22q11.2. Distal arthrogryposis is an aetiologically heterogeneous condition and there is a need to reach a specific diagnosis in a child with distal arthrogryposis (multiple congenital contractures), especially when other anomalies or malformations exist as well. The pathogenesis of the arthrogryposis in the present patient is not evident. A neurological cause is unlikely, since at the age of 1 year, her motor development was normal, unlike many other infants with a del22q11.2, who are often hypotonic and have a delay in gross and fine motor skills [4]. A primary defect of the tendons is an alternative explanation. This report further illustrates the highly variable clinical presentation of a del22q11.2. This disorder should always be suspected in a child with one of the major features of a del22q11.2 syndrome (such as palate
anomalies or a heart defect), even when other, atypical features, such as arthrogryposis or multiple joint contractures, are associated.
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