Assuntos
Displasia Campomélica/diagnóstico , Cifose/diagnóstico , Insuficiência Respiratória/diagnóstico , Escoliose/diagnóstico , Índice de Gravidade de Doença , Adulto , Displasia Campomélica/complicações , Feminino , Humanos , Recém-Nascido , Cifose/complicações , Gravidez , Resultado da Gravidez , Insuficiência Respiratória/etiologia , Escoliose/complicaçõesRESUMO
Campomelic dysplasia is a rare hereditary congenital osteochondral dysplasia characterized by abnormal bowing of the lower limbs, sex reversal in males, and other skeletal and extraskeletal abnormalities. It is usually fatal in the neonatal period because of respiratory insufficiency. The diagnosis is usually difficult because of its rare presentation and the prognosis is poor. We present such a case in a 1-month-old child with typical skeletal abnormalities, whose presentation was unusual because of later presentation of respiratory distress and lack of genitourinary abnormalities.
Assuntos
Displasia Campomélica/diagnóstico , Displasia Campomélica/complicações , Evolução Fatal , Humanos , Lactente , Masculino , Insuficiência Respiratória/etiologiaRESUMO
Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation with or without sex reversal. About 10% of cases that present with milder skeletal features are referred to as acampomelic campomelic dysplasia (ACD). CD and ACD are caused by mutations in SOX9. We report a patient of homozygous SOX9 deletion with minimal skeletal anomaly and female external genitalia in the presence of a male karyotype. The mechanisms explaining the homozygous deletion include a de novo mutation followed by gene conversion, uniparental disomy, or somatic crossing over. Our report highlights the possibility of ACD in XY sex-reversed patients with minimal skeletal presentation.
Assuntos
Displasia Campomélica/genética , Disgenesia Gonadal 46 XY/genética , Fatores de Transcrição SOX9/genética , Deleção de Sequência , Displasia Campomélica/complicações , Displasia Campomélica/diagnóstico por imagem , Primers do DNA , Disgenesia Gonadal 46 XY/complicações , Homozigoto , Humanos , Recém-Nascido , Masculino , RadiografiaRESUMO
Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.