Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report.
Short rib polydactyly syndrome (SRPS) is a very rare congenital autosomal recessive inherited disease, classified into four subtypes. It has distinct imaging findings on prenatal sonography (US) and ancillary findings on both pre- and postnatal examinations may help classify individual cases into one of four subtypes. We report the US findings in a case of SRPS type IV (Beemer-Langer dysplasia) in a male fetus with multiple congenital anomalies, including cystic hygroma. The postnatal ultrasound, radiographic, and postmortem examinations helped to classify the SRPS as type IV. We believe this is the first documented case associating cystic hygroma and polydactyly.
Taori
Kishor B
KB
Department of Radiodiagnosis, Government Medical College and Hospital, Nagpur 440003, India.
Sharbidre
Kedar G
KG
Krishnan
Vijay
V
Kundargi
Nischal
N
Kulkarni
Bipin R
BR
Satkar
Vinay
V
Bopche
Sneha
S
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D001344:Autopsy; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D007668:Kidney / Q000473:pathology*; D018191:Lymphangioma, Cystic / Q000175:diagnosis / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging*; D050497:Stillbirth; D016216:Ultrasonography, Prenatal; D055815:Young Adult