Situs inversus totalis

A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


Total: 2

                      


(per page)
PMID (PMCID)
12880132
FEMALE Child
Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly.
Kurtoglu S, Atabek ME.
J Pediatr Endocrinol Metab. 2003;16(5):795-8.
A 6 year-old female showed growth hormone deficiency, situs inversus totalis, short stature, blue sclerae, facial dismorphism, brachydactyly, developmental delay and hypertrichosis.
10327248
FEMALE Adult
New syndromic entity of situs inversus totalis.
Mubashir MA, Sabry MA, Farah S, Haseeb N, Quasrawi B, al-Busairi W, al-Dabbous R, al-Awadi SA, Farag TI.
Clin Dysmorphol. 1999;8(1):23-7.
She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects.