Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
نویسندگان
چکیده
منابع مشابه
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malform...
متن کاملA case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The be...
متن کاملA mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia
BACKGROUND Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS This is a single case report on a patient with clinical and radiological features of ACD who has no m...
متن کاملCampomelic dysplasia: evidence of autosomal dominant inheritance.
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
متن کاملA Case of Campomelic Dysplasia without Sex Reversal
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flatte...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2019
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.2228