Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.
Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogeneous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.
Soulier
Marie
M
Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.
Sigaudy
Sabine
S
Chau
Cécile
C
Philip
Nicole
N
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D002972:Cleft Palate / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005094:Exophthalmos / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008844:Micrognathism / Q000235:genetics; D010375:Pedigree; D010855:Pierre Robin Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D006831:Polyhydramnios / Q000000981:diagnostic imaging / Q000209:etiology; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D016216:Ultrasonography, Prenatal