A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.
We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal.
Baynam
Gareth
G
Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au
Kiraly-Borri
Cathy
C
Goldblatt
Jack
J
Dickinson
Jan E
JE
Jevon
Gareth P
GP
Overkov
Angela
A
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging*; D004487:Edema / Q000150:complications* / Q000000981:diagnostic imaging*; D004838:Epiphyses / Q000473:pathology; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D008297:Male; D011180:Postmortem Changes; D011247:Pregnancy; D012008:Recurrence; D016216:Ultrasonography, Prenatal