ABSTRACT
Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.
Subject(s)
Abnormalities, Multiple/genetics , Arachnodactyly/genetics , Blepharophimosis/genetics , Connective Tissue Diseases/genetics , Contracture/genetics , Ion Channels/genetics , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/embryology , Adult , Agenesis of Corpus Callosum/diagnostic imaging , Agenesis of Corpus Callosum/genetics , Amino Acid Sequence , Amino Acid Substitution , Arachnodactyly/diagnostic imaging , Arachnodactyly/embryology , Blepharophimosis/diagnostic imaging , Blepharophimosis/embryology , Child , Clubfoot/diagnosis , Clubfoot/embryology , Clubfoot/genetics , Connective Tissue Diseases/diagnostic imaging , Connective Tissue Diseases/embryology , Consanguinity , Contracture/diagnostic imaging , Contracture/embryology , Dandy-Walker Syndrome/diagnostic imaging , Dandy-Walker Syndrome/embryology , Dandy-Walker Syndrome/genetics , Female , Genetic Association Studies , Humans , Intellectual Disability/genetics , Ion Channels/deficiency , Male , Pedigree , Sequence Alignment , Sequence Homology, Amino Acid , Ultrasonography, PrenatalABSTRACT
The analysis of the reasons and mechanisms of development of an protein-energy malnutrition, communication of fetal pathology and development of an protein-energy malnutrition at mature age is submitted. Systemic character of a syndrome is marked out. Importance of a problem of an protein-energy malnutrition at patients with a dysplasia of a connecting tissue is bound to high prevalence of a syndrome at this pathology.
Subject(s)
Connective Tissue Diseases/complications , Protein-Energy Malnutrition/etiology , Body Weight/physiology , Connective Tissue Diseases/embryology , Connective Tissue Diseases/epidemiology , Energy Metabolism/physiology , Female , Fetal Development/physiology , Humans , Pregnancy , Protein-Energy Malnutrition/embryology , Protein-Energy Malnutrition/epidemiologyABSTRACT
OBJECTIVE: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. CASE REPORT: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction. CONCLUSION: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.
Subject(s)
Arthritis/diagnosis , Arthritis/genetics , Collagen Type II/genetics , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/genetics , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Retinal Detachment/diagnosis , Retinal Detachment/genetics , Adult , Arthritis/embryology , Connective Tissue Diseases/embryology , Female , Hearing Loss, Sensorineural/embryology , Humans , Mutation , Pregnancy , Retinal Detachment/embryology , SyndromeABSTRACT
Caput succedaneum is the soft swelling of the neonatal scalp that may extend over the suture line, as opposed to cephalhaematoma, which is restricted by the suture. However, if caput succedaneum and cephalhaematoma coexist and the swelling crosses the suture line, it may be diagnosed as caput succedaneum and the cephalhaematoma will be easily missed, both on the radiograph and clinically. We report an interesting MR finding in a neonate who simultaneously showed both caput succedaneum and cephalhaematoma.