An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to in

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aplasie cutanée congénitale autosomique récessive

SNOMEDCT-BE (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to / 720500008

SNOMEDCT-BE (disorder) / 720500008

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An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to

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syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale

SNOMEDCT-BE (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to / 720500008

SNOMEDCT-BE (disorder) / 720500008

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A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed o

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dysplasie ischio-patellaire

SNOMEDCT-BE (disorder) / 720752007

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patellar aplasia [ congenital absence of the patella ]

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aplasie rotulienne [ apatellie | agénésie rotulienne | absence congénitale de rotule ]

Musculoskeletal System | Symptoms (Medicine)

Appareil locomoteur (Médecine) | Symptômes (Médecine)

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