Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.
BMJ Case Rep
; 17(6)2024 Jun 04.
Article
em En
| MEDLINE
| ID: mdl-38834308
ABSTRACT
Ehlers-Danlos syndrome is a group of connective tissue disorders with 14 subtypes, involving joint hyperlaxity, tissue fragility, hypertensive skin and other systemic organs with an incidence of 1 in 1 000 000 worldwide. We report a middle childhood female born of second degree consanguineous marriage with limping gait with muscle weakness, with normal development and IQ. Examination revealed microcornea, distal joint laxity of fingers and wrist, hypotonia and broad-based limping gait. Fracture dislocation right hip was managed by fixation. With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlos syndrome (musculocontractural type-1). Hence, genetic counselling was done and prognosis of the child was explained.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cerebelo
/
Síndrome de Ehlers-Danlos
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
BMJ Case Rep
/
BMJ case reports
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia