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Congenital Knee Dislocation in a 49,XXXXY Boy J Med Genet: First Published As 10.1136/Jmg.32.4.309 on 1 April 1995

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Congenital Knee Dislocation in a 49,XXXXY Boy J Med Genet: First Published As 10.1136/Jmg.32.4.309 on 1 April 1995 _JMed Genet 1995;32:309-311 309 Congenital knee dislocation in a 49,XXXXY boy J Med Genet: first published as 10.1136/jmg.32.4.309 on 1 April 1995. Downloaded from R H Sijmons, A J van Essen, J D Visser, M Iprenburg, G F Nelck, M L Vos-Bender, B de Jong Abstract hands. The diagnosis Larsen syndrome was We report on a 12 year old mentally re- suggested at that time. The dislocations of the tarded boy who presented at birth with knees and right hip were treated conservatively. bilateral knee dislocations, dislocation of A knee-ankle-foot brace was prescribed for the the right hip, and general joint laxity. instability of both knees. Milestones in psy- Cytogenetic studies showed a 49,XXXXY chomotor development were delayed. He stood karyotype. Hyperlaxity of joints is known at the age of 15 months; however, subsequent to occur in 49,XXXXY patients, but con- motor development, supported by the brace, genital knee dislocation has not been re- was adequate. At the age of 2 he still could not ported. Rarely in 49,XXXXY and 49, speak more than two words. At the age of 5 XXXXX syndromes Larsen-like features his IQ was estimated to be between 50 and may be seen. Patients with congenital joint 60, with a relatively severe expressive speech dislocation or laxity, combined with other deficit. His behaviour was described as shy and malformations, especially if psychomotor withdrawn. development is delayed, should be At the age of 11 the boy was referred for karyotyped to exclude chromosomal clinical genetic evaluation of the diagnosis and abnormalities. for genetic counselling. Physical examination of the patient (fig 2) at that time showed tall (J Med Genet 1995;32:309-311) stature (160 cm, >97th centile), weight 45 kg (90th to 97th centile), head circumference 53 cm (50th centile), inner canthal distance Congenital joint dislocation and joint laxity 3-7 cm (>97th centile) with normal outer can- may result from a wide variety of causes in- thal and interpupillary distances. A small ep- cluding genetic, non-genetic, or combinations icanthic fold was present on the right side. of both. Congenital dislocations of the knee The nasal bridge was broad but not depressed. are rare, occurring 40 to 80 times less frequently Protrusion of the incisors was noted. The cor- than congenital dislocation of the hip.' We ners of the mouth were downtumed. Total http://jmg.bmj.com/ report on a 12 year old boy who presented with Department of congenital dislocation of both knees and the Medical Genetics, right hip and joint laxity of shoulders, elbows, University of and thumbs. He was initially misdiagnosed as Groningen, A. having Larsen syndrome. Cytogenetic studies Deusinglaan 4, NL- 9713AW, Groningen, showed a 49,XXXXY karyotype. The Netherlands on September 26, 2021 by guest. Protected copyright. R H Sijmons A J van Essen B de Jong Case report This patient was the first child of healthy, non- Department of Orthopaedics, consanguineous parents (father aged 29 and Wilhelmina Hospital, mother 26 years at the time of birth). The Assen, The pregnancy was uneventful. The volume of am- Netherlands J D Visser niotic fluid was normal. At 38 weeks breech M Iprenburg presentation was diagnosed. After 42 weeks labour started spontaneously but because of Department of lack of progression a Paediatrics, caesarean section was Wilhelmina Hospital, performed. Birth weight was 3200 g (25th cent- Assen, The ile), height 54 cm (90th to 97th centile), and Netherlands head circumference 36 cm (50th centile). The G F Nelck skull was rather square shaped (caput quad- Beatrix Children's ratum), the palpebral fissures were short, and Clinic, Academic epicanthic folds were present (fig 1). Both Hospital Groningen, Groningen, The hands showed a simian crease. The penis was Netherlands small and the testes were descended. Laxity of M L Vos-Benders the elbow joints was noted. Both knees showed Correspondence to: anterior subluxation (dislocation grade II). Dr Sijmons. There was marked instability of the anterior Received 25 January 1994 cruciate ligament and medial lateral ligament. Revised version accepted for publication 24 November The right hip was also dislocated. Radiological 1994 examination showed normal ossification of the Figure 1 The patient aged 9 months. 310 Sijmons, van Essen, Jisser, Iprenburg, Nelck, Vos-Bender, de J7ong Chromosomal abnormalities with reported congenital knee dislocation and multiple joint dislocations46 12 kyphosis/scoliosis, and mental retardation. Se- verely impaired language development with a Congenital knee dislocation 49,XXXXY remarkable discrepancy between language ex- Trisomy 9 (mosaicism), 21 pression and comprehension is a characteristic Partial monosomy 1q25 --q32, 6pter-623, 1 Opter-*p 13, finding in 49,XXXXY patients as is J Med Genet: first published as 10.1136/jmg.32.4.309 on 1 April 1995. Downloaded from 15q22-6q24, 17pter-ppll.2 shy, with- Partial trisomy 6ql3- q21, 9pter- q33, 1Oq24-*qter, drawn behaviour.5 Joint laxity, hypotonia, or 12p, 12q24--qter, 13ql2--q22 both are found Partial tetrasomy 9p(mosaicism) in approximately 33% of 49, Ring chromosomes 13, 14, 18 XXXXY patients6 and hip dislocation and su- Combinations dup(9pter--q22) & del (9q34-+qter), bluxations of the elbows dup (16q22-qter) & del have been known to (15q26.1 -*qter) occur.7 Congenital knee dislocation has not Congenital multiple joint dislocations been reported before in 49,XXXXY patients. 49,XXXXX In a substantial subset of patients with con- 49,XXXXY knee Trisomy 9 (mosaicism) genital dislocation there is a history of Partial monosomy Iq21 -*q25 prolonged breech presentation, especially in Partial tetrasomy 9p combination with In our Combinations del (6pter-p23) & dup (1q32-qter) oligohydramnios.' patient the knee dislocation may have resulted Chromosomal abnormalities are summarised and the symptoms from the combination of listed may involve smaller segments than those described here. joint laxity and four Those aberrations that feature joint dislocation in more than weeks of breech presentation. To our know- 10% of cases are shown in bold print. It should be noted that one other many of the chromosomal abnormalities listed are rare and the ledge only 49,XXXXY patient with calculated frequencies of their phenotypic features may alter a history of breech presentation has been re- significantly if additional cases are published. Abnormalities and knee with fewer than 10 reported cases are printed in italics. ported dislocations, oligohydramnios, and joint laxity were absent.9 Interestingly, Dryer et al'0 reported a 49,XXXXX girl who was also initially misdiagnosed as having Larsen hand length and length of the middle fingers Other were normal syndrome. chromosomal abnormalities (50th centile) and both fifth fin- have also been reported to present with Larsen- gers were disproportionately short. There was like features." Larsen syndrome is genetically a simian crease on both hands. Both thumbs heterogeneous and features multiple congenital and elbows could be hyperextended. The dislocations the shoulders were narrow and (usually including knees), os- showed joint laxity. seous anomalies, and a characteristic facies. The feet were in valgus position and showed Mental retardation is unusual.4 In the majority flat arches. The distance between the first and ofcases careful second toes was physical examination ofpatients enlarged. The fifth toe over- with luxation and caused a lapped the fourth on the right foot. joint laxity by chro- The penis mosomal abnormality will not lead to the wrong was small (3 5 cm, <3rd centile). Only one of Larsen small diagnosis syndrome or one of the testicle could be palpated in the inguinal other hereditary syndromes featuring joint lax- canal. The diagnosis of Larsen syndrome was and dislocations. considered unlikely and the differential ity multiple However, as has diag- been discussed above, Larsen-like features may nosis included chromosomal abnormalities. occasionally mislead the physician, especially http://jmg.bmj.com/ in newborns. Chromosomal aberrations featuring con- CYTOGENETIC STUDIES genital knee dislocation and multiple joint dis- Fifty-nine metaphases were analysed in cul- location are summarised in the table. General tured peripheral blood lymphocytes using joint laxity is a far more common finding and standard G banding techniques. A 49,XXXXY may be present in patients with aneuploidy pattern was found in 57 metaphases. A 48, for many different chromosomal segments."' on September 26, 2021 by guest. Protected copyright. XXXY pattern was found in two metaphases, Within this group, the relatively frequent ab- representing either an artefact or true chro- errations include trisomies of chromosomes mosomal mosaicism. The parents had normal 9(mosaicism), 21, and of the segments karyotypes (29 metaphases analysed in both). 7q32-*qter, 10p, 10q24-÷qter, and 20p. Also No cell line is available from the patient for included are partial monosomies of segments research purposes. 4pter-*pl6 and 8q23.3-+q24.1, and ring chro- mosome 22. The combination of congenital joint dislocation or laxity with other mal- Discussion formations should alert the physician to the 49,XXXXY is a relatively rare chromosomal possibility of a chromosomal abnormality. Ka- abnormality. A birth prevalence of ap- ryotyping these patients, including the ones proximately 1 in 85 000 newborn males has suspected of having Larsen syndrome, espe- been suggested.2 In 1960 Fraccaro et alr were cially if psychomotor development is delayed, the first to report 49,XXXXY. The phenotype should be part of their diagnostic programme. has been reported since in over 100 case stud- ies4 and includes low birth weight, slow growth 1 Bensahel H, Dal Monte A, Hjelmsted A, et al. Congenital bone dislocation of the knee. J Pediatr Orthop 1989;9:174-7. (retarded age), craniofacial anomalies 2 Kleczkowska A, Fryns JP, van den Berghe H. X chromosome (hypertelorism, strabismus, upward slanting polysomy in the male. Hum Genet 1988;80:16-22.
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