Short rib polydactyly syndrome (type III)

Short rib polydactyly syndrome (type III) Relevant markers:

Bowed femurBrachydactyly of fingersHigh-rising clavicles (per CT)Horizontal acetabula (per CT)Marginal spursNarrow thoraxPostaxial polydactyly of fingersPostaxial polydactyly of toesRhizomelia/short femurRhizomelia/short humerusShort long bonesShort rib/sSmall iliac wingsTriangular partial ossification defects (per CT)Ulnar deviation

Parents markers:

MacrocephalyMicromelia - armsMicromelia - legsShort limbs

Involved genes:
(gene — definition — chromosome)

DYNC2H1 — DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1 — 11q22.3

Other online databases:

OMIM

References:

2011	J Obstet Gynaecol Res	Case report	Read on PubMed
2012	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2016	Genet Mol Res	Case report	Read on PubMed
2018	Taiwan J Obstet Gynecol	Case report	Read on PubMed