Malformations.org - List of cases

Cases (Graph)

Here is the list of cases that have been entered in the system, with the list of their associated malformations and etiology.

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Case	Observed developmental anomalies :	Diagnosis :	Etiology :
HSJ476	Intrauterine growth retardation, symmetric Neck edema Short neck Large anterior fontanelle Low-set ears Retrognathia
HSJ477	Triploidy, Maternal, nonmolar (triploidy by digyny) Intrauterine growth retardation, symmetric Relative Macrocephaly Syndactyly of the fingers, complex, bilateral Syndactyly of the toes, complex, bilateral Pulmonary hypoplasia Pulmonary lobation anomalies Intestinal malrotation Ambiguous genitalia Clitoris hyperplasia Pulmonary artery hypoplasia Lobulated, fused and horseshoe kidney Adrenal hypoplasia, fetal Placenta hypoplasia
HSJ478	Gothic palate Bulbous nose Long philtrum Microretrognathia Hypertrophy of the Thymus Pulmonary lobation anomalies Pulmonary hypoplasia Splenomegaly, congenital Nephromegaly, bilateral Single umblical artery (SUA)-Isolated Periventricular Leukomalacia (PVL)
HSJ479	Talipes equinovarus, bilateral Pena Shokeir syndrome , Type I Arthrogryposis Facial dysmorphism Hypertelorism Small mouth Posteriorly inclined and low-positioned ears Micrognathia Gothic palate Cubital deviation of the hand, unilateral Rocker-bottom feet Short neck Nonimmune hydrops fetalis (NIHF) Placental hydrops
HSJ480	Limb-body-wall complex syndrome Teratoma, cerebral Primordial iris Facial dysmorphism Anophthalmos, bilateral Arhinencephaly Olfactory bulbs, absence of Olfactory nerve, absence of, bilateral Clivus, absence of Posterior cranial fossa dismorphisme Teratoma, cerebral Exophthalmos, bilateral Hypertelorism Arhinia Gastroschisis Short umbilical cord Rudimentary radius and ulna (unilateral) Oligodactyly Talipes equinovarus, bilateral Intrauterine growth retardation, symmetric
HSJ481	Ambiguous genitalia Nonimmune hydrops fetalis (NIHF) Intrauterine growth retardation, symmetric Facial dysmorphism Hypertelorism Retrognathia Posteriorly inclined and low-positioned ears Cleft palate, bilateral Dolicocephaly Transverse palmar crease, bilateral Clindodactyly of 5th finger, bilateral Imperforate Anus Rocker-bottom feet Persistent left superior vena cava Pulmonary artery hypoplasia Dextroposition of aorta Renal hypoplasia, unilateral Renal agenesis, unilateral Ureteral duplication, complete, unilateral Thymic hypoplasia Presence of an infantile uterus with both testes Absence of the Septum Pellucidum Corpus callosum agenesis Probst bundle Cerebral ventriculomegaly		Chromosomal anomaly: trisomy 22
HSJ482	Nonimmune hydrops fetalis (NIHF) Intrauterine growth retardation, symmetric Sever pale fetus Acardiac twinning, with pump twin demise
HSJ483	Encephalocele, frontal Nasal hypoplasia Low-set ears Small mouth Limbs hypoplasia Brachydactyly Asplenia Thymic hypoplasia Absence of diaphragm, left Hypoplasia of the liver Hypoplasia of the pancreas rudimentary heart, congenital Pulmonary hypoplasia Absence of one paire the rib Clavicle, absence of small intestinal atresia and stenosis Nonimmune hydrops fetalis (NIHF) Short umbilical cord Placenta hypoplasia Intrauterine growth retardation, symmetric
HSJ484	Camptodactyly, unilateral Transposition of the Great Arteries Talipes equinovarus,unilateral Toe hypoplasia, first, bilateral Hepatomegaly, fetal Adrenal hypertrophy, fetal, bilateral Long umbilical cord
HSJ485	Potter deformity sequence Potter's facies Flat face Low-set ears Hypertelorism Arthrogryposis Nonimmune hydrops fetalis (NIHF) Placenta circumvallata Retroplacental hemorrhage Vascular insufficiency of peripheral limb,lower limbs
HSJ486	Anencephaly Facial dysmorphism Hypertelorism Exophthalmos, bilateral Broad nasal bridge Long philtrum Intrauterine growth retardation, symmetric Clindodactyly of 5th finger, bilateral Narrow thorax Short neck Adrenal hypoplasia, fetal
HSJ487	Lobulated, fused and horseshoe kidney Omphalocele Ureteral duplication, complete, unilateral Facial dysmorphism Posteriorly inclined and low-positioned ears Retrognathia Prominent and pointed nose Large anterior fontanelle Clindodactyly of 5th finger, bilateral Narrow thorax Short neck Trilobate lung, bilateral Pulmonary hypoplasia Adrenal hypoplasia, fetal Single umblical artery (SUA)-Isolated		Chromosomal anomaly: Trisomy 18
HSJ488	Cystic hygroma Nonimmune hydrops fetalis (NIHF) Pulmonary hypoplasia Adrenal hypoplasia, fetal Placental hydrops Cerebral ventriculomegaly
HSJ489	Intrauterine growth retardation, symmetric Low-set ears Micrognathia Overlapping fingers Toe hypoplasia, first, bilateral Coarctation of aorta, Hydronephrosis, congenital, bilateral Renal pelvis dilatation, bilateral Ureterovesical junction stenosis		Chromosomal anomaly: Trisomy 18
HSJ490	Hypertelorism Clindodactyly of 5th finger, bilateral Hypogenesis of the Cerebellar Vermis Cerebellar hypoplasia Cerebral ventriculomegaly		Chromosomal anomaly: Trisomy 21
HSJ491	Hypertelorism Low-set ears Tetralogy of Fallot Giant omphalocele Hypoplasia of diaphragm Placenta hypoplasia Short umbilical cord
HSJ492	Giant omphalocele Tetralogy of Fallot Imperforate Anus Renal ectopia,crossed Placenta hypoplasia Single umblical artery (SUA)-Isolated
HSJ493	Hypoplastic left heart syndrome (HLHS) Hypoplasia of ascending aorta Transverse aortic hypoplasia Bicuspid aortic valve Defective developement of left ventricle Persistent left superior vena cava
HSJ494	Facial dysmorphism Posteriorly inclined and low-positioned ears Lymphedema of the neck Coarctation of aorta, Hypoplasia of ascending aorta Bicuspid aortic valve Defective developement of left ventricle Persistent left superior vena cava
HSJ495	Nonimmune hydrops fetalis (NIHF) Cystic hygroma Pulmonary hypoplasia Transverse aortic hypoplasia Intrauterine growth retardation, symmetric Placenta hypoplasia		Chromosomal anomaly: Turner syndrome
HSJ496	Anencephaly Anencephaly facies Posteriorly inclined and low-positioned ears Exophthalmos, bilateral Macroglossia Gothic palate Short neck Neck edema Camptodactyly, unilateral Multicystic renal dysplasia,bilateral Pulmonary hypoplasia Single umblical artery (SUA)-Isolated Placenta hypoplasia
HSJ497	Encephalocele, occipital Broad nasal bridge Pulmonary hypoplasia Placenta hypoplasia Corpus callosum agenesis Cerebral ventriculomegaly
HSJ498	Facial dysmorphism Microretrognathia Short neck Renal agenesis, unilateral Periventricular Leukomalacia (PVL) Cleft palate, median posterior
HSJ499	Coarctation of aorta, Ventricular septal defect, membranous Placental hypertrophy Nonimmune hydrops fetalis (NIHF)
HSJ500	Potter deformity sequence Posterior urethral valves, congenital Megacystis Hydronephrosis, congenital, bilateral Potter's facies Micrognathia Flattened nose Penis edema Renal pelvis dilatation, bilateral Dilatation of ureter , bilateral, congenital Intra-abdominal testicule

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