Kyphomelic dysplasia: phenotypic variability and presence of a caudal appendage
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LETTER TO THE EDITOR Pediatr Radiol (2002) 32: 910–911 DOI 10.1007/s00247-002-0753-0 Artur Alegria Denise Schmitt Lina Ramos Eduarda Abreu Carmen Santos Kyphomelic dysplasia: phenotypic variability and presence of a caudal appendage Received: 15 February 2000 Accepted: 8 April 2002 Published online: 19 September 2002 Ó Springer-Verlag 2002 A. Alegria (&) D. Schmitt E. Abreu Department of Paediatrics, Maternity Ju´lio Dinis, Largo da Maternidade, 4050 Porto, Portugal E-mail: [email protected]Tel.: +351-2-26087400 Fax: +351-2-26087406 L. Ramos Medical Genetics Institute Jacinto de Magalha˜es, Porto, Portugal C. Santos Department of Radiology, Hospital Geral de Santo Anto´nio, Porto, Portugal Sir, Until the cause of a skeletal dys- plasia has been elucidated, its dif- ferential diagnosis should be based mainly on the clinical and radio- graphic findings; thus it is important that all cases be reported. Kyphomelic dysplasia is a rare, autosomal recessive inherited skeletal dysplasia, the most striking feature of which is congenital severe angulation of short and broad femora [1]. Several other associated anomalies have been reported, such as bowing and shortening of other long bones, skin dimpling over the bone angulation, irregular and flared metaphyses, midfacial hypoplasia, narrow thorax, hypoplastic acetabula and, rarely, cleft palate [2]. To date, only 19 cases of kyphomelic dysplasia have been reported, mostly in males [3]. We recently identified a new case in a female infant. The subject was the first child of a non-consanguineous, young, healthy couple. Prenatal US at 32 weeks’ gestation showed oligohydramnios, a small-for-dates fetus with shortening of both femora, and breech presen- tation. She was born by caesarean section at 33 weeks’ gestation with a birth weight of 1,390 g, length 34 cm and OFC 30 cm. She showed some dysmorphic clinical and radiographic features: (1) short lower limbs with symmetrical, short, broad, curved femora, with slight metaphyseal widening (Fig. 1), (2) skin dimpling over the apex of the femoral angula- tion, (3) hypoplastic acetabula with bilateral hip dislocation, (4) mildly bowed radii, (5) limited extension of the knees, (6) Pierre-Robin sequence (retrognathia, cleft palate and glos- soptosis), (7) broad nasal bridge, (8) long philtrum, (9) capillary hae- mangioma over the mid forehead and nasal bridge and (10) low-set ears. The radiographic study showed no abnormalities of the other long bones, spine, skull or thorax. She had normal female external genitalia and Fig. 1 Radiograph of the lower limbs and pelvis at 1 month showing short, markedly bowed femora and hypoplastic acetabula
LETTER TO THE EDITORPediatr Radiol (2002) 32: 910–911DOI 10.1007/s00247-002-0753-0
Artur Alegria
Denise Schmitt
Lina Ramos
Eduarda Abreu
Carmen Santos
Kyphomelic dysplasia: phenotypic variabilityand presence of a caudal appendage
Received: 15 February 2000Accepted: 8 April 2002Published online: 19 September 2002� Springer-Verlag 2002
A. Alegria (&) Æ D. Schmitt Æ E. AbreuDepartment of Paediatrics,Maternity Julio Dinis,Largo da Maternidade, 4050 Porto,PortugalE-mail: [email protected].: +351-2-26087400Fax: +351-2-26087406
L. RamosMedical Genetics Institute Jacinto deMagalhaes, Porto, Portugal
C. SantosDepartment of Radiology,Hospital Geral de Santo Antonio,Porto, Portugal
Sir,Until the cause of a skeletal dys-
plasia has been elucidated, its dif-ferential diagnosis should be basedmainly on the clinical and radio-graphic findings; thus it is importantthat all cases be reported.
Kyphomelic dysplasia is a rare,autosomal recessive inheritedskeletal dysplasia, the most strikingfeature of which is congenital severeangulation of short and broadfemora [1]. Several other associatedanomalies have been reported, suchas bowing and shortening of otherlong bones, skin dimpling over thebone angulation, irregular and flaredmetaphyses, midfacial hypoplasia,narrow thorax, hypoplastic
acetabula and, rarely, cleft palate [2].To date, only 19 cases of kyphomelicdysplasia have been reported, mostlyin males [3]. We recently identified anew case in a female infant.
The subject was the first child of anon-consanguineous, young, healthycouple. Prenatal US at 32 weeks’gestation showed oligohydramnios, asmall-for-dates fetus with shorteningof both femora, and breech presen-tation. She was born by caesareansection at 33 weeks’ gestation with abirth weight of 1,390 g, length 34 cmand OFC 30 cm. She showed somedysmorphic clinical and radiographicfeatures: (1) short lower limbs with
symmetrical, short, broad, curvedfemora, with slight metaphysealwidening (Fig. 1), (2) skin dimplingover the apex of the femoral angula-tion, (3) hypoplastic acetabula withbilateral hip dislocation, (4) mildlybowed radii, (5) limited extension ofthe knees, (6) Pierre-Robin sequence(retrognathia, cleft palate and glos-soptosis), (7) broad nasal bridge, (8)long philtrum, (9) capillary hae-mangioma over themid forehead andnasal bridge and (10) low-set ears.The radiographic study showed noabnormalities of the other longbones, spine, skull or thorax. She hadnormal female external genitalia and
Fig. 1 Radiograph of the lower limbs and pelvis at 1 month showing short, markedlybowed femora and hypoplastic acetabula
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normal 46XX karyotype. Cerebraland renal US were normal. Serumcalcium, phosphate and alkalinephosphatase were normal. Theimmunological studies (lymphocytecount and phenotyping, serumimmunoglobulins and complement)were all normal.
After birth she required assistedventilation for respiratory distresssyndrome until day 6. After sponta-neous ventilation had been achieved,she presented some feeding difficul-ties because of the Pierre-Robinsequence. The infant was dischargedon day 86. At age 3 months, adeveloping small caudal appendageoverlying the sacrum was noted(Fig. 2). MRI of the lumbosacralspine was normal (Fig. 3).
The patient fulfils the diagnosticcriteria for kyphomelic dysplasia,but involvement of the long bones islargely restricted to the femora,confirming the phenotypic variabili-ty of the disorder and possibleoverlap with the femoral hypoplasia-unusual facies syndrome. Further-more, the presence of a caudalappendage has not previously beendescribed in this disorder.
References
1. Maclean RN, Prater WK, Lozzio CB(1989) Skeletal dysplasia with short,angulated femora (kyphomelic dyspla-sia). Am J Med Genet 14:373–380
2. Temple IK, Thompson EM, Hall CM,et al (1989) Kyphomelic dysplasia.J Med Genet 26:457–468
3. Cisarik F, Kozlowski K, Masel J, et al(1999) Variability in kyphomelic dys-plasia. Pediatr Radiol 29:551–557
Fig. 2 Caudal appendage overlying the sacrum (5 mm at 5 months)
Fig. 3 MRI of the lumbosacral region shows no occult dysraphism
