Abstract
Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally the lower limbs. It is also associated with other severe skeletal and extraskeletal malformations. Karyotype study may reveal sex reversal. The majority of carriers die during the fetal and early neonatal periods. Ultrasound is essential to elucidate a prenatal diagnosis.
Highlights
Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages
It is caused by a mutation in gene Sox[9]
it is transmitted as an autosomal dominant trait
Summary
Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. São também comuns o desenvolvimento de incompatibilidade entre o genótipo e o fenótipo genital, com cariótipo 46XY e genitália feminina, e o óbito no período neonatal, devido à insuficiência respiratória[4,5]. Embora a literatura especializada mostre que a definição diagnóstica da maioria dos casos de displasia camptomélica ocorre só após o nascimento[6], a ampla variedade de anomalias e os altos índices de mortalidades fetal e neonatal requerem um diagnóstico antenatal precoce.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
