Subject(s)
Fetal Diseases/pathology , Hyperemesis Gravidarum/complications , Stroke/complications , Wernicke Encephalopathy/etiology , Brain/pathology , Brain Ischemia/pathology , Cerebellar Ataxia/etiology , Cerebral Ventricles/pathology , Confusion/psychology , Female , Fetal Diseases/diagnosis , Humans , Hyperemesis Gravidarum/diagnosis , Magnetic Resonance Imaging , Pregnancy , Stroke/diagnosis , Wernicke Encephalopathy/diagnosisABSTRACT
Casamassima-Morton-Nance syndrome belongs to the heterogeneous group of spondylocostal dysostoses (SCD) represented by a large heterogeneous group in which diverse diagnoses, associations and modes of inheritance are found. Common features include segmentation abnormalities of the vertebrae and ribs. Here, we report on a fetal case with spondylocostal dysostosis, anal and genitourinary malformations and discuss Casamassima-Morton-Nance syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Anal Canal/abnormalities , Dysostoses/pathology , Urogenital Abnormalities/genetics , Dysostoses/genetics , Fetus/abnormalities , Humans , Ribs/abnormalities , Spine/abnormalities , SyndromeABSTRACT
BACKGROUND: We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester. METHODS AND RESULTS: Cytogenetic studies performed on amniocytes revealed a normal female karyotype. Autopsy after termination of pregnancy showed facial dysmorphism, cleft palate, bowed, shortened limbs, hypoplasia of the preaxial elements in all four limbs with accompanying accessory ossification centres in the feet, and severe calvarial underossification. A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. The degree of undermodelling and campomelia was reminiscent of another group of conditions that include atelosteogenesis types 1 and 3, caused by mutations in FLNB. Sequencing analysis did not reveal any pathogenic mutation in the three paralogous filamin genes: FLNA, FLNB and FLNC. CONCLUSION: Clinical, radiological and cytogenetic findings suggest that this phenotype is a new entity whose aetiopathogenesis may be functionally related to the filaminopathies.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/genetics , Face/abnormalities , Osteochondrodysplasias/diagnostic imaging , Polydactyly/diagnostic imaging , Abnormalities, Multiple/pathology , Abortion, Induced , Adult , Autopsy , Bone Diseases, Metabolic/pathology , Cleft Palate/diagnostic imaging , Contractile Proteins/genetics , Cytogenetic Analysis , Female , Fetal Diseases/diagnostic imaging , Filamins , Humans , Microfilament Proteins/genetics , Mutation , Osteochondrodysplasias/genetics , Osteochondrodysplasias/pathology , Polydactyly/pathology , Pregnancy , UltrasonographyABSTRACT
Cysts located on the tongue are rare and usually diagnosed in childhood. Here we report on the prenatal diagnosis of an unusual cystic malformation of the tongue with heterotopic intestinal tissue explored by prenatal ultrasound, magnetic resonance imaging and on its surgical treatment and histological examination. The prenatal differential diagnoses as well as perinatal management of cystic lesions of the tongue are reviewed.
