A case of Acro-renal-mandibular syndrome in an 18 week male fetus.
An 18 week male fetus is described with Acro-renal-mandibular syndrome. This third reported case of the syndrome is the first known male case and extends the phenotypic spectrum that characterizes the condition.
Tobias
E S
ES
Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, Scotland, UK.
Patrick WJA
MacKenzie
J R
JR
Whiteford
M L
ML
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology; D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005530:Foot Deformities / Q000175:diagnosis* / Q000196:embryology; D005865:Gestational Age; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000196:embryology; D008334:Mandible / Q000002:abnormalities* / Q000196:embryology; D011247:Pregnancy; D013577:Syndrome