Craniosynostosis, dolichostenomelia, proptosis, low-set ears, arachnodactyly, camptodactyly
, pes planus, pectus excavatum or carinatum, scoliosis, joint hyperextensibility or contractures, hydrocephalus, dilatation of lateral ventricles, Chiari 1 malformation may be seen in this syndrome.
Another reported case with Triple X syndrome was a 7-year-old girl with multiple congenital anomalies including curved bushy eyebrows, small palpebral fissures, a broad nasal bridge, a bilateral cleft lip and palate, camptodactyly
, sacral meningomyelocele and bilateral talipes equinovarus.
A postmortem dysmorphological examination of the infant resulted in the discovery of brachycephaly, narrow forehead, hypotelorism, deeply set eyes, microphthalmia, flattened nasal bridge with one nostril, posteriorly rotated ears, camptodactyly
, and bilateral single palmar crease (Figures 1 and 2).
The distal extremities show malformations like camptodactyly
, ulnar deviation, and clubfoot.
There appears to be a characteristic facies involving camptodactyly
, downslanting palpebral fissures, inguinal or umbilical hernia, hypotonia, high-arched palate, and low-set posteriorly rotated ears .
He had undergone a left small finger proximal interphalangeal joint arthrodesis for presumed camptodactyly
at age 16.
It is characterised by facial and distal limb contractures, the most common being microstomia with pouting lips, camptodactyly
with ulnar deviation of the fingers and talipes equinovarus.
And can have Camptodactyly
, Hypermobility of ligaments and tendons.
(78) Patients also have feeding difficulties, and it is associated with camptodactyly
, clubfoot, and scoliosis.
Eleven index subjects were observed to have 16 associated malformations, the most common of which were syndactyly (n=5) and camptodactyly
H syndrome (OMIM 612391) is an autosomal recessive genodermatosis characterized by progressive cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hypogonadism, short stature, hearing loss, hallux valgus, camptodactyly
and occasionally insulin-dependent diabetes mellitus (IDDM).
In KS patients, skeletal anomalies such as syndactyly, polydactyly, or camptodactyly
were exclusively seen in presence of FGFR1/FGF8 mutations .