A similar role is fulfilled by some fetal anomalies common to several chromosomopathies, such as cervical macrocystic lymphatic malformation (cystic hygroma), axillary pterygium and brachydactyly
The clinical features of Peters plus syndrome includes a prominent forehead, narrow palpebral fissures, a long philtrum, cupid's bow upper lips, cleft lip and palate, preauricular ribs, micrognathia, a broad neck, cataracts and glaucoma, short limbs, brachydactyly
, clinodactyly, microcephaly, brain atrophy, agenesis of the corpus callosum, and variable developmental delay and intellectual disability.
Limb and dermatoglyphics feature showed sandal gap in 42.1% cases, Kennedy crease in 53.2% cases brachydactyly
in 37.3% cases, clinodactyly in 36.5% cases, polydactyly in 4% cases, simian crease in 33.3% cases, Sydney line in 24.6% cases and increased ATD angle in 40.5% cases.
A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
Although none of the 7 with NPR2 heterozygosity had the classic Madelung deformity, reported skeletal features included mesomelic limb shortening, cone shaped epiphyses, cubitus valgus, short 5th phalanges and short 4th metacarpals, and/or brachydactyly
. Of the 2 ISS patients, one ISS patient had cubitus valgus while phenotypic features were not documented in the other .
The skeletal characteristics specifically concern the hands and feet, with a clinical appearance of brachydactyly
with ulnar or radial deviation of the fingers and short feet.
Bones and joints defects were also evident: pectum excavatum, single transverse palmar crease, brachydactyly
, flat foot, and stature below 25th percentile (Figure 1).
Hypochondroplasia is a skeletal dysplasia which is characterized by short stature, macrocephaly, brachydactyly
, limited range of motion at the elbows, lumbar lordosis and bowed legs.
Other abnormalities include limbs malformations (clubfoot, absence or underdevelopment of the fingers, syndactyly, and brachydactyly
), orofacial malformations (uvula bifida, cleft palate, underdevelopment of eyelid, epicanthal folds, hypertelorism, micrognathia, and deformity of the ear with hearing loss) , and other congenital syndromes such as Poland, Kallman, or Hanhart syndrome.
Pseudoachondroplasia (PSACH; MIM# 177170) is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, brachydactyly
, joint laxity, scoliosis, early onset osteoarthritis, and epiphyseal and metaphyseal abnormalities.
Spherophakia with brachydactyly
; comparison with Marfan's syndrome.
Moreover he had brachydactyly
and fetal finger pads.