Campomelic dysplasia — an underdiagnosed condition?

Normann, Erik Kreyberg; Pedersen, Jan; Stiris, G; Hagen, Carl Birger van der

doi:10.1007/bf01956747

Cited by 17 publications

(7 citation statements)

References 8 publications

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“…The reported incidence varies between 0-05 and 1-6 per 10000. 2 An unusual aspect of CMD is that some patients with male karyotypes have female or ambiguous genitalia with a spectrum of sexual differentiation. 3 The histology of the ovaries in sex reversed males varies from gonads with testicular differentiation4 to dysgenetic gonads with primary follicles.'…”

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confidence: 99%

A clinical and genetic study of campomelic dysplasia.

Mansour

Hall

Pembrey

et al. 1995

Journal of Medical Genetics

227

198

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Campomelic dysplasia (CMD) is a rare skeletal disorder that is usually lethal. It is characterised by bowing of the lower limbs, severe respiratory distress, and many of the chromosomal (XY) males show sex reversal. Because of a number of reports of familial campomelic dysplasia it is considered to be inherited in an autosomal recessive manner. In this study, details of 36 patients with campomelic dysplasia were collected from genetic centres, radiologists, and pathologists in the United Kingdom. The chromosomal sex ratio was approximately 1:1. There was a preponderance of phenotypic females owing to sex reversal. Three quarters of the chromosomal males were sex reversed or had ambiguous genitalia. Three cases are still alive, two with chromosomal rearrangements involving chromosome 17q. The majority of the others died in the neonatal period.The 36 index cases had 41 sibs of whom only two were affected. Formal segregation analysis gave a segregation ratio of 005 (95% CI -0-00 to 0.11). This excludes an autosomal recessive mode of inheritance. The data suggest a sporadic, autosomal dominant mode of inheritance. Patients with a chromosomal rearrangement involving 17q (q23.3-q25.1) show a milder phenotype. The molecular mechanism for the difference is still unknown.

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confidence: 99%

A clinical and genetic study of campomelic dysplasia.

Mansour

Hall

Pembrey

et al. 1995

Journal of Medical Genetics

227

198

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“…Other sonographic fea tures that are com monly pres ent in clude growth re stric tion; bell-shaped nar row chest; 11 pair of ribs; hypoplasia of the midthoracic ver te bral bod ies, fib ula, and scap ula; scoliosis; short ness of the limbs; talipes equinovarus; tracheobronchomalacia and re spi ra tory distress; flat and small face; high fore head with prom i nent occiput; low na sal bridge; micrognathia; macrocephaly; cleft of the soft pal ate; hypertelorism; low-set and mal -formed ears; hy dro ceph a lus and ambiguous genitalia (1,4,10,11). A kyphosis or scoliosis was not a com mon find ing on neo natal x rays, but fea tured more fre quently in sur viv ing cases (9).…”

Section: Introductionmentioning

confidence: 89%

A rare case of campomelic dysplasia: a case report

Kovachev

Balev

Veseli

2011

SSM

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We re port an un com mon case of campomelic dysplasia in a 24-year-old pa tient nuliparva, preg nant in 38 g.w. with breech pre sen ta tion, ad mit ted at the Spe cial ized Ob stet rics and Gy ne col ogy Hos pi tal. The ul tra sound ex am i na tion vi su al ized Intrauterine Growth Re tar da tion (IUGR) as well as se vere angulation and rhizomelic short en ing of the fe mur and tibia. Those ultrasonography fea tures sug gested the pres ence of campomelic dysplasia. Af ter a planned Cesarian sec tion, a fe male baby was de liv ered, weigh ing 2250 gr. The postnatal X ray was man aged and the di ag no sis was con firmed with out other abnormallites. The ge netic test ing es tablished nor mal karyo types of the par ents and we sug gested the new SOX 9 mu ta tion of the baby. No in di vid ual fea ture is pathognomonic of this con di tion, how ever the most typ i cal char ac ter is tic sign of campomelic dysplasia is the marked an te rior bow ing of the long bones, par tic u larly of the femur and tibia.

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“…Campomelic dysplasia is a rare autosomal dominant disorder with different phenotypes characterised by skeletal dysplasia, including kyphoscoliosis, and developmental abnormalities due to mutations of SOX9 gene located on chromosome 17. 1 Respiratory failure is common in severe kyphoscoliosis. It can usually be successfully managed with nocturnal NIV.…”

Section: Successful Pregnancy In Ventilatory Failure Due To Campomelimentioning

confidence: 99%

“…1 Respiratory failure is common in severe kyphoscoliosis. It can usually be successfully managed with nocturnal NIV.…”

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confidence: 99%