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 :
HSJ226	Facial dysmorphism Sloping forehead Low-set ears Broad nasal bridge Clindodactyly of 5th finger, bilateral Pulmonary hypoplasia Right bilobate lung
HSJ227	Neck edema Facial dysmorphism Flat face Flattened occiput Mongoloid slope of the palpebral fissures Hypertelorism Low-set ears Macroglossia Transverse palmar crease, bilateral Pulmonary hypoplasia Absence of one paire the rib
HSJ228	Polymicrogyria, diffuse Macrocephaly
HSJ229	Defective developement of left ventricle Mitral valve atresia Aortic atresia Micrognathia
HSJ230	Single transverse palmar crease, unilateral Pulmonary hypoplasia Arthrogryposis Micrognathia
HSJ231	Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis, Placenta hypoplasia
HSJ232	Hypoplasia of fibula Hypoplasia of tibia Hypoplasia of foot and toe(s) Hypoplasia of hand and fingers Syndactyly of the fingers, complex, bilateral Syndactyly of the toes, complex, bilateral Hepatomegaly, fetal Splenomegaly, congenital
HSJ233	Polydactyly of the foot Wide space between 1st and 2nd toes, bilateral Foot edema Clindodactyly of 5th finger, bilateral Wide space between 2nd and third toes,unilateral
HSJ234	Cystic hygroma Intrauterine growth retardation, symmetric Cerebral ventriculomegaly Communicating hydrocephalus Placental hypermaturity
HSJ235	Tetralogy of Fallot Intrauterine growth retardation, symmetric Right aortic arch
HSJ236	Intrauterine growth retardation, symmetric Coarctation of aorta, Long umbilical cord Pulmonary hypoplasia Micrognathia Flattened nose Infarcted placenta
HSJ237	Rocker-bottom feet Cubital deviation of the hand, bilateral Pulmonary hypoplasia Intrauterine growth retardation, symmetric
HSJ238	Syndactyly, simple (webbed), fingers Overlapping fingers Cleft palate, bilateral Hypertelorism Low-set ears Micrognathia Facial dysmorphism Scoliosis, congenital Arthrogryposis Pulmonary hypoplasia Axillary pterygia, bilateral Talipes equinovarus, bilateral Renal hypertropy, fetal, bilateral
HSJ239	Recessed forehead Hypertelorism Low-set ear, unilateral Cubital deviation of the hand, unilateral Intrauterine growth retardation, symmetric Flattened nose
HSJ240	Dextrocardia, isolated Endocardial fibroelastosis Facial dysmorphism Micrognathia Hypertelorism
HSJ241	Myelomeningocele,lumbosacral with hydrocephalus Talipes equinovarus, bilateral Renal agenesis, unilateral
HSJ242	Single transverse palmar crease, unilateral Low-set ears Prominent and pointed nose Micrognathia Toe hypoplasia, first, bilateral Placenta hypoplasia
HSJ243	Single transverse palmar crease, unilateral Toe hypoplasia, first, bilateral Wide space between 2nd and third fingers Talipes equinovarus,unilateral Duodenal atresia and stenosis, congenital Macrosomia		Chromosomal anomaly: Trisomy 21
HSJ244	Pulmonary hypoplasia Bulbous nose Potter deformity sequence Cubital deviation of the hand, unilateral Talipes equinovarus, bilateral Placenta circumvallata		Chromosomal anomaly: Trisomy 21
HSJ245	Limbs hypoplasia, lower extremities Intrauterine growth retardation, symmetric Nonimmune hydrops fetalis (NIHF) Myelomeningocele, lumbosacral		Chromosomal anomaly:
HSJ246	Right atrium Enlargement Intrauterine growth retardation, symmetric Pulmonary artery hypoplasia Right ventricular hypoplasia Shortening (micromelia) of upper limb(s) Amelia of the upper limb, unilateral Talipes equinovarus, bilateral Toe hypoplasia, first, bilateral Imperforate Anus Renal hypoplasia Pulmonary hypoplasia Single umblical artery (SUA)-Isolated Dysplasia of hip, unilateral, congenital Scrotal hypoplasia
HSJ247	Persistent truncus arteriosus Trilobate lung, bilateral Preauricular fistula, congenital (PAFC) Polydactyly of the hand, preaxial Single umblical artery (SUA)-Isolated Asplenia Dextroposition of stomach and pancreas
HSJ248	Shortening (micromelia) of upper limb(s), unilateral Hydronephrosis, congenital, unilateral Hepatomegaly, fetal Cardiomegaly, fetal Long umbilical cord Communicating hydrocephalus
HSJ249	Omphalocele Cleft palate, bilateral Low-set ears Polydactyly of the hand, preaxial Syndactyly of the fingers, complex, unilateral Intrauterine growth retardation, symmetric Placenta hypoplasia Arthrogryposis,lower limbs
HSJ250	Hydroureter, unilateral Nuchal cord Hydronephrosis, congenital, bilateral Placenta hypoplasia

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