We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a nonconsanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings raise the possibility that at least some cases of neurogenic arthrogryposis multiplex congenita might be due to genetic defects of this type. (J Child Neurol 2005;20:76—78).
Ryan AK, Goodship JA, Wilson DI, et al: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet1997;34:798—804.
3.
Eirís Puñal J , Fuster Siebert M, Barros Angueira F, et al: Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion. J Child Neurol2001;16:450—452.
4.
Digilio MC, Angioni A., De Santis M, et al: Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies. Clin Genet2003;63:308—313.
5.
Aicardi J.: Diseases of the Nervous System in Childhood, 2nd ed. London, Mac Keith Press, 1998.
6.
Ouvrier RA, McLeod JG, Pollard JD: Peripheral Neuropathy in Childhood, 2nd ed. London, Mac Keith Press, 1999.
Fedrizzi E., Botteon G., Inverno M., et al: Neurogenic arthrogryposis multiplex congenita: Clinical and MRI findings. Pediatr Neurol1993;9:343—348.
9.
Kalboriboon K., Hayat GR: Congenital cervical spinal atrophy: An intrauterine hypoxic insult. Neuropediatrics2001;32:330—334.
10.
Pena Sdj, Miller F., Budzilovich GN, Feigin I.: Arthrogryposis multiplex congenita. Report of two cases with a radicular type with familial incidence. Neurology1968 ;18:926—930.
11.
Hagemman G., Ramaekers VT, Hilhorst Rgj, Rozeboom AR: Congenital cervical spinal muscular atrophy: A non-familial, non-progressive condition of the upper limbs. J Neurol Neurosurg Psychiatry1993;56:365—368.
12.
Paladini D., Tartaglione A., Agangi A., et al: Pena-Shokeir phenotype with variable onset in three consecutive pregnancies. Ultrasound Obstet Gynecol2001 ;17:163—165.
Boylan KB, Ferriero DM, Greco CM, et al: Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol1992;31:337—340.
16.
Hall J., Vincent A.: Arthrogryposis, in Jones R, De Vivo DC, Daras BT (eds): Neuromuscular Disorders of Infancy, Childhood, and Adolescence. A Clinician's Approach. Amsterdam, Butterworth Heinemann, 2003,123-141.
17.
Prasad C., Quackenbush EJ, Whiteman D., Kort B.: Limb anomalies in DiGeorge and CHARGE syndromes. Am J Med Genet1997;68:179—181.
18.
Mongini T., Doriguzzi C., Arduino C., et al: Myopathy in a patient with chromosome 22q11 deletion. Neuropediatrics2001;32:107—109.
19.
Bolland E., Manzur AY, Milward TM, Muntoni F.: Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing. Eur J Paediatr Neurol2000;4:73—76.
Shprintzen RJ, Morrow B., Kucherlapati R.: Vascular anomalies may explain many of the features in velo-cardio-facial syndrome, abstract . Am J Hum Genet1997;61:A5.
22.
Kariyazono H., Ohno T., Ihara K., et al: Rapid detection of the 22q11 deletion with quantitative real-time PCR. Mol Cell Probes2001;15:71—73.
23.
Yoshikawa H. , Abe T. Hypoparathyroidism and facial dysmorphism as main symptoms of 22q.11 deletion syndrome. Brain Dev2003; 25:211—214.
