ABSTRACT
Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by defects of spine formation, abnormal fusion of the ribs at the costovertebral and costochondral junction due to abnormal vertebral and costal segmentation. There are two subtypes associated with different distribution and severity of defects in JLS. While vertebral segmentation abnormalities are frequent in spondylo-thoracic subtype costal segmentation and fusion abnormalities are frequent in spondylo-costal subtype. Neural tube defects with severe hydrocephalus are rare findings in this syndrome. Herein we report three infants with severe hydrocephalus associated with Jarcho-Levin syndrome.
Subject(s)
Heart Defects, Congenital/complications , Hernia, Diaphragmatic/complications , Hydrocephalus/etiology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Female , Heart Defects, Congenital/genetics , Heart Defects, Congenital/pathology , Hernia, Diaphragmatic/genetics , Hernia, Diaphragmatic/pathology , Humans , Hydrocephalus/genetics , Hydrocephalus/pathology , Infant, Newborn , Male , Severity of Illness IndexABSTRACT
Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly. Cebocephaly is a very rare congenital anomaly combining with semilobar holoprosencephaly. Chromosomal analysis shows normal karyotyping. Lissencephaly and holoprosencephaly are rare associations, that have not been reported yet with cebocephaly. Herein we present the first case of cebocephaly with severe semilobar holoprosencephaly and lissencephaly.
Subject(s)
Abnormalities, Multiple/diagnosis , Craniofacial Abnormalities/diagnosis , Holoprosencephaly/diagnosis , Lissencephaly/diagnosis , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/genetics , Comorbidity , Craniofacial Abnormalities/epidemiology , Craniofacial Abnormalities/genetics , Female , Holoprosencephaly/epidemiology , Holoprosencephaly/genetics , Humans , Infant, Newborn , Lissencephaly/epidemiology , Lissencephaly/genetics , Severity of Illness IndexABSTRACT
Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar, cardiac and craniofacial abnormalities. Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present prolonged respiratory problems due to pulmonary hypertension in a preterm baby with Ritscher-Schinzel syndrome.
Subject(s)
Bronchopulmonary Dysplasia/etiology , Craniofacial Abnormalities/complications , Dandy-Walker Syndrome/complications , Heart Septal Defects, Atrial/complications , Respiratory Distress Syndrome, Newborn/etiology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Craniofacial Abnormalities/genetics , Craniofacial Abnormalities/physiopathology , Dandy-Walker Syndrome/genetics , Dandy-Walker Syndrome/physiopathology , Female , Heart Septal Defects, Atrial/genetics , Heart Septal Defects, Atrial/physiopathology , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases , Respiratory Distress Syndrome, Newborn/complicationsABSTRACT
Neonates are obligate nasal breathers, and any form of neonatal nasal obstruction may have serious consequences. Prompt diagnosis and appropriate treatment are essential to avoid severe hypoxia. Congenital bony nasal stenosis (CBNS) is an extremely rare cause of neonatal nasal airway obstruction and can easily be confused with choanal atresia or stenosis. This is a paper to describe a balloon dilatation technique that can be an effective alternative to surgery for the treatment of congenital nasal cavity stenosis, with minimal stress to the patient.
