Agammaglobulinaemia - microcephaly - craniosynostosis - severe dermatitis (Q102690): Difference between revisions
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Esta síndrome combina agamaglobulinemia com microcefalia acentuada, atraso significativo no desenvolvimento, craniossinostose, dermatite grave, fenda palatina, estreitamento das coanas e blefarofimose. Foi descrita em três irmãos, dois homens e uma mulher, nascidos de pais não consanguíneos. A transmissão é provavelmente autossômica recessiva. Tem sido sugerido que esta síndrome represente uma nova forma de agamaglobulinemia devida a um defeito na maturação precoce das células B. | |||
| description / en | description / en | ||
This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. | |||
Revision as of 19:52, 16 August 2026
This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1531821301 |
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| English | Agammaglobulinaemia - microcephaly - craniosynostosis - severe dermatitis |
This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. |
