Case #10040 - Microcephaly, anorectal agenesis, vertebral anomalies
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Malformative association
- imperforate anus
- anal agenesis
- rectovesical fistula
bilateral renal anomalies with unilateral renal agenesis and unilateral obstructive renal dysplasia
- oligohydramnios (Potter sequence)
- low-set ears
- micrognathia
- small nose
- flattened nose
- anteverted nose
- receding chin
- deformity of feet
- bilateral club feet
- fetal akinesia sequence (FAS)
- upper limb pterygia
- elbow ankylosis
- lower limb pterygia
- hip ankylosis
- knee ankylosis
- thin, gracile long bones
- ankle ankylosis
- talipes equinovarus
- neurogenic muscle atrophy
- limb hyperextension hypertony
radial ray anomalies
- thumb insertion anomaly
- proximally inserted thumb
D12-L1-L2 vertebral hypoplasia
Cytogenetics
?
Diagnostic hypothesis
VATER association
Townes-Brock syndrome (SALL1 germline mutations)