Microcephaly - hypogammaglobulinaemia - abnormal immunity (Q99228): Difference between revisions
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Síndrome de Say-Barber-Miller é caracterizada pela associação de características faciais incomuns, microcefalia, atraso no desenvolvimento e grave retardo de crescimento pós-natal. Foi relatado em dois irmãos nascidos de pais normais. Características adicionais incluem hipogonadismo, contraturas em flexão, patela hipoplásica, escoliose, eczema e infecções recorrentes. A fácies característica era marcada por testa inclinada, nariz adunco, orelhas grandes e salientes e micrognatia. Níveis baixos de gamaglobulinas séricas e quimiotaxia defeituosa foram detectados em ambos os meninos durante a infância. A hipogamaglobulinemia melhorou com a idade, mas a quimiotaxia defeituosa e as infecções recorrentes persistiram. | |||
| description / en | description / en | ||
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted. | |||
Revision as of 15:53, 16 August 2026
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_720025180 |
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| English | Microcephaly - hypogammaglobulinaemia - abnormal immunity |
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted. |
