Back to Search
Start Over
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1812-1814. Date of Electronic Publication: 2020 May 22. - Publication Year :
- 2020
-
Abstract
- 3MC syndromes are rare heterogeneous autosomal recessive conditions previously designated as Mingarelli, Malpuech, Michels, and Carnevale syndromes, characterized by dysmorphic facial features, facial clefts, growth restriction, and intellectual disability. 3MC is secondary to mutations in the MASP1, MASP3, COLEC11, and COLEC10 genes. The number of patients with 3MC syndrome with known mutations in the COLEC11 or MASP1 is, to date, less than 50. At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC syndrome was MASP1. We present, to the best of our knowledge, the first prenatal report of 3MC syndrome, secondary to a homozygous variant in MASP1. Fetal findings included bilateral cleft lip and palate, abnormality of the sacral spine, a right echogenic pelvic kidney, and brachycephaly. 3MC syndrome should be considered as part of the differential diagnosis when fetal ultrasound detects facial clefts and spinal defects, as the risk of recurrence is significant and a molecularly confirmed diagnosis allows for alternate reproductive options.<br /> (© 2020 Wiley Periodicals, Inc.)
- Subjects :
- Abdominal Muscles abnormalities
Abdominal Muscles pathology
Abnormalities, Multiple diagnosis
Abnormalities, Multiple pathology
Blepharoptosis genetics
Blepharoptosis pathology
Cleft Lip diagnosis
Cleft Lip pathology
Cleft Palate genetics
Cleft Palate pathology
Craniofacial Abnormalities genetics
Craniofacial Abnormalities pathology
Craniosynostoses genetics
Craniosynostoses pathology
Cryptorchidism genetics
Cryptorchidism pathology
Face abnormalities
Female
Hip Dislocation, Congenital genetics
Hip Dislocation, Congenital pathology
Humans
Intellectual Disability genetics
Intellectual Disability pathology
Male
Mutation genetics
Pregnancy
Strabismus genetics
Strabismus pathology
Abnormalities, Multiple genetics
Cleft Lip genetics
Intellectual Disability diagnosis
Mannose-Binding Protein-Associated Serine Proteases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 182
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Report
- Accession number :
- 32441374
- Full Text :
- https://doi.org/10.1002/ajmg.a.61624