Distal arthrogryposis type IIB: probable autosomal recessive inheritance

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<ul><li><p>Clin Genet 1999: 56: 9597Printed in Ireland. All rights reser6ed</p><p>Letter to the Editor</p><p>Distal arthrogryposis type IIB: probableautosomal recessive inheritance</p><p>To the Editor:The distal arthrogryposes (DAs) are defined as agroup of inherited primary limb malformationdisorders with an autosomal dominant inheritancepattern, reduced penetrance and variable expres-sivity. They are characterised by congenital con-tractures of two or more different areas of thebody, with or without primarly neurologic and:ormuscle disease that affect limb function (1).</p><p>Hall et al. (2) classified these disorders into twomain groups: DA type I (DA I), which is charac-terised by congenital contractures in two or morebody areas without additional physical abnormal-ities, and DA type II (DA II), when other associ-ated anomalies are observed. DA II is dividedinto five categories, named types AE dependingon the anomalies that are present in each patient.Bamshad et al. (1) proposed an extended classifi-cation of DA with nine different types.</p><p>We report a Mexican family with two affectedsibs, healthy non-consanguineous parents and nofamily history of neuromuscular or skeletal disor-ders. Patient 1 is a 6-year-old male and patient 2is a 4-year-old female, products of a term, un-complicated pregnancy, delivered by caesareansection. Their weights and lengths were low atbirth. Both patients showed expressionless face,congenital hip dislocation, talipes equinovarusand camptodactyly in the hands. The foot andhip abnormalities were surgically corrected whenthe patients were 18 months old. On clinical ex-amination, they also presented with short stature,palpebral ptosis, hypertrichosis of eyelids, micros-tomia, high arched palate, micrognathia and lowset ears (Fig. 1AB). Pectus carinatum andkyphoscoliosis, smooth tapering fingers, abnormaldermatoglyphics in both hands, camptodactyly ofthe right hand in the male patient and bilateralcamptodactyly in the female patient (Fig. 1CD)and limited extension of the right knee were alsonoted. Muscular hypotrophy was present, butno myotonia or delay in relaxation was ob-served. Tone and strength were slightly reduced inall muscle groups. Mental development was nor-</p><p>mal in both cases and they attended a normalschool.</p><p>The radiological evaluation was similar in bothpatients, showing skullface disproportion, nasalbones aplasia, acetabular dysplasia, kyphoscolio-sis and under-mineralisation of the skeleton.</p><p>The electromyography study showed a slightlymyopathic picture, with increased proportion ofpoliphasic potentials and low amplitude in bothpatients and no evidence of myotonia. Musclebiopsy examination was performed only in patient1 and this showed a non-specific myopathic ab-normality with hypertrophy of type I and type IImuscular fibres. The chromosomal analysis with aG-banding pattern was normal in both patients.</p><p>The patients reported here showed multiplecongenital malformations consisting of joint con-tractures, camptodactyly, expressionless face, pto-sis of the eyelids, microstomia and shortness ofstature compatible with DA IIB type according toHalls classification (2) or with a DA type 4 ofBamshads classification (1). We considered differ-ential diagnosis with the MardenWalker syn-drome in which an essential condition is thepresence of psychomotor retardation, which wasabsent in our patients (310, 15). The SchwartzJampel syndrome presents with myotonia, whichis also lacking in our patients (16). Other campo-dactyly syndromes were also excluded on the ba-sis of grossly different clinical features, such asfacial appearance and hypoplasia or agenesis ofthe patella (1114).</p><p>All DA types reported so far have been inher-ited as autosomal-dominant traits. The familythat we report, with two affected sibs and pheno-typically normal parents, is highly suggestive ofautosomal recessive inheritance. We propose thatthis family may correspond to an atypical DAtype IIB or that they may represent a differentclinical entity.</p><p>MR Ri6eraCA A6ila</p><p>S Kofman-Alfaro</p><p>95</p></li><li><p>Letter to the Editor</p><p>Fig. 1. A) Expressionless face of patient 1. B) Expressionless face of patient 2. C) Camptodactyly of the third finger of the righthand in patient 1. (D) Camptodactyly of both hands in patient 2.</p><p>References</p><p>1. Bamshad M, Jorde LB, Carey JC. A revised and extendedclassification of the distal arthrogryposes. Am J MedGenet 1996: 65: 277281.</p><p>2. Hall JG, Reed SD, Greene G. The distal arthrogryposes:delineation of new entities. Review and nosologic disec-tion. Am J Med Genet 1982: 11: 185239.</p><p>3. Abe K, Niikawa N, Sasaki H. ZollingerEllison syndromewith MardenWalker syndrome. Am J Dis Child 1979:133: 735738.</p><p>4. Howard FM, Rowlandson P. Two brothers with the Mar-denWalker syndrome: case report and review. J MedGenet 1981: 18: 5053.</p><p>5. Ferguson SD, Young ID, Teah R. Congenital myopathywith oculo facial and skeletal abnormalities. Dev MedChild Neurol 1981: 23: 237242.</p><p>6. Jaatoul NY, Haddad EN, Khoury LA, Afifi AK, BahuthNB, Deeb ME, Mikati MA, Der Kaloustian VM. Briefclinical report and review: the MardenWalker syndrome.Am J Med Genet 1982: 11: 259271.</p><p>7. Gossage D, Perrin JM, Butler MG. Brief clinical reportand review: a 26-month-old child with MardenWalkersyndrome and pyloric stenosis. Am J Med Genet 1987: 26:915919.</p><p>8. Nehama L, Mathot I, Livoff A, Glass J, Bornstein I, GrossE, Yatsiv S, Sommer A. Congenital myopathy with oculo-facial abnormalities (MardenWalker syndrome). Am JMed Genet 1991: 39: 377379.</p><p>9. Garca-Alix A, Blanco D, Cabanas F, Garcia SP, PellicerA, Quero J. Early neurological manifestations and brainanomalies in MardenWalker syndrome. Am J MedGenet 1992: 44: 4145.</p><p>96</p></li><li><p>Letter to the Editor</p><p>10. Ozkinay F, Ozurek AR, Bakiler AR, Narin N, Yuksel H,Ozkinay C, Parlar A, Arcasoy M. A case of MardenWalker syndrome with DandyWalker malformation. ClinGenet 1995: 47: 221223.</p><p>11. Rozin MM, Hertz M, Goodman RM. A new syndromewith camptodactyly, joint contractures, facial anomalies,and skeletal defects: a case report and review of syndromeswith camptodactyly. Clin Genet 1984: 26: 342355.</p><p>12. Cantu JM, Rivera ZN, Rojas AH, Garca CD. Guadala-jara camptodactyly syndrome: a distinct probably auto-somal recessive disorder. Clin Genet 1980: 18: 153159.</p><p>13. Cantu JM, Garca CD, Gil VJ, Nazara Z, Ramirez ML,Sole P, Sanchez CJ. Guadalajara camptodactyly syndrometype II. Clin Genet 1985: 28: 5460.</p><p>14. Figuera LE, Ramirez ML, Garca CD, Villar V, CantuJM. Guadalajara camptodactyly syndrome type I. A cor-roborative family. Clin Genet 1993: 43: 1115.</p><p>15. Marden PM, Walker WA. A new generalized connectivetissue syndrome. Am J Dis Child 1966: 112: 225228.</p><p>16. Schwartz O, Jampel RS. Congenital blepharophimosis as-sociated with a unique generalized myopathy. ArchOpthalmol 1962: 68: 5257.</p><p>Correspondence:MR RiveraDepartamento de GeneticaHospital General de MexicoDr. Balmis 148Col. Doctores, CP.06726, MexicoD.F. Mexico</p><p>97</p></li></ul>