Robinow syndrome

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

Frontal bossing

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


合計: 1

                      


(表示件数)
PMID (PMCID)
6683959
MALE Infant, Newborn
[Robinow's syndrome. Apropos of a case with thrombopenia].
Khayat D, Schaison G, Frija J, Szpirglas H.
Arch Fr Pediatr. 1983;40(4):327-30.
We report on a 17 month-old boy with Robinow' syndrome characterized by mild dwarfism, brachymelia, frontal bossing, hypertelorism, upturned nose, gingivodental, vertebral and bone age abnormalities, hypoplastic genitalia with normal gestation, birth weight and length and intelligence.