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).
Shprintzen-Goldberg syndrome (SGS), is a syndrome characterized by typical dysmorphic features, craniosynostosis and marfanoid
features, skeletal and neurological abnormalities.
At physical evaluation, marfanoid
habitus with waxy, sagging skin and varicose veins in the feet was observed.
Target gene sequencing was used to detect the proband and his 8-year-old daughter, both manifesting a marfanoid
aortic sinus and tall stature.
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
MEN2B is associated with an aggressive form of MTC (100.0%; usually incurable if diagnosed [greater than or equal to] 13 yo), PHEO (58.0%), marfanoid
habitus, and ganglioneuromatosis of the gut and oral mucosa [57, 59-61].
Subsequently, several anomalies were evidenced: narrow palate, pectus excavatum, recurrent hernias, arachnodactyly, general marfanoid
physical aspect, and joint laxity with a high degree of elbow extension, besides cardiac and ocular anomalies.
This correlates with descriptions of untreated or LD HCU patients as being taller and leaner with a "Marfanoid
" appearance [1, 2, 18-20], reminiscent of the genetic condition Marfan syndrome.
Marfan's gene was not tested given the pathology finding, absent Marfanoid
clinical features, and negative family history.
A 28-year-old man with marfanoid
habitus was admitted to our ICU with GBS.
features were noticed as moderate thoracic kyphoscoliosis, moderate hypermobility of all joints and skin hyperextensibility, positive thumb and wrist signs.