The presentations of this metabolic disorder include developmental delay, intellectual disability, epilepsy, ectopia lentis, myopia, hypopigmentation of the skin and hair, marfanoid habitus
, and thromboembolic disorders. These manifestations are often overlooked in the early stage until the occur of thrombotic events like cerebral venous sinus thrombosis (CVST).
SGS is a syndrome characterized by marfanoid habitus
, dolichocephaly, craniosynostosis, mental retardation, ocular proptosis, hypertelorism, down slanting palpebral fissures, strabismus, low-set ears, micrognathia, arachnodactyly, camptodactyly.
At physical evaluation, marfanoid habitus
with waxy, sagging skin and varicose veins in the feet was observed.
Goldsmith, "Bilateral popliteal aneurysms complicating adult polycystic kidney disease in a patient with a marfanoid habitus
," Postgraduate Medical Journal, vol.
Another syndrome that should be taken into account in the differential diagnosis is Shprintzen-Goldberg syndrome, which includes craniosynostosis, mental retardation, and marfanoid habitus
. 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 .
A 28-year-old man with marfanoid habitus
was admitted to our ICU with GBS.
Children with Shprintzen Goldberg Syndrome are often said to have a marfanoid habitus
, because their bodies resemble those of people with a genetic condition called Marfan syndrome.
For example, 1 had a marfanoid habitus
(12) and another had medullary thyroid carcinoma (7).
The Steinberg test for arachnodactyly, in which the thumb is adducted across the palm, was considered a possible indication of marfanoid habitus
, if the thumb projected beyond the ulnar boarder of the hand.
(tall, slim, span >height; upper segment: lower segment ratio less than 0.89, arachnodactyly) 6.
In addition to joint hypermobility, key diagnostic features include such skin changes as increased stretchiness, paper-thin scars, striae atrophicae, and features of a marfanoid habitus
. There are currently no diagnostic laboratory tests for JHS.
Because the Marfanoid habitus
may be present in patients with Marfan syndrome and those with cystathionine [beta]-synthase deficiency, diagnostic mistakes continue in the medical community.