[MIM 134 780]

(FHUFS)

Prevalence < 1/1.106. Association of a uni - or bilateral hypoplasia of the femurs and facial dysmorphism that includes:

-        upslanting palpebral fissures

-        a small nose with wide tip,

-        a long philtrum, and a thin upper lip,

-        micrognathia with cleft palate (especially i n girls)

One can observe: vertebral segmentation abnormalities, pre-axial polydactyly, malformations of the ears and of the genitourinary tract (dysplastic kidneys, or hypoplasia), persistence of the ductus arteriosus (see this term). Intellectual development is normal except in case of anomalies of the central nervous system: cortico-subcortical atrophy, colpocephaly (abnormal dilation of the occipital horns of the lateral ventricles), partial agenesis of the corpus callosum, hypoplasia of the cerebral falx and absence of the septum pellucidum.

Anesthetic implications:

difficult intubation

References :

Updated: November 2018