Case #11247 - Tetraphocomelia and renal agenesis
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Synopsis
femal fetus, 20 weeks, 181g
46, XX
severe oligohydramnios
intra-uterine growth retardation (IUGR)
medial posterior cleft palate medial posterior
short neck
hypertelorism
facial dysmorphism
- microtia/anotia
- severe micrognathia (severe mandibular hypoplasia)
- long philtrum
- severe hypoplasia of nasal bones
- flat nose
- choanal atresia
narrow thorax
- ten gracile ribs
phocomelia (tetraphocomelia)
- four very short limbs
upper limb anomalies
- bilateral short humerus (bilateral humeral hypoplasia)
- right radial agenesis
- right cubital agenesis
- bilateral oligodactyly
- right 4th-5th finger syndactyly
- right 2th-3th finger syndactyly
- left radial agenesis
- left cubital hypoplasia
- bilateral club hand
- upper limb post-axial hexadactyly
- thumb anomalous implantation
- bilateral thumb hypoplasia
- bilateral incomplete thumb
lower limb anomalies
- bilateral very short lower limbs
- bilateral femoral hypoplasia
- bilateral fibular aplasia
- bilateral tibial aplasia
- bilateral anomalous feet position
- bilateral lower limb pre-axial hexadactyly
- foot 2th-3th digits syndactyly
- quadriplication hallux
Diagnostic hypothesis
Roberts syndrome
Otopalatodigital syndrome type 2 (MIM.304120)
Candidate genes
?