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132 Possible Causes for Congenital Heart Disease, Sacral Dimple

  • Wolf Hirschhorn Syndrome

    dimples.[] heart disease.[] dimples and a characteristic face ('Greek helmet appearance') 1,2 .[]

  • Smith Lemli Opitz Syndrome

    Other rare associated malformations include diaphragmatic hernia, anal atresia, thymus hypoplasia, sacral dimple, pyloric stenosis, Hirschsprung’s disease.[] The malformations present were facial dysmorphisms, cleft palate, congenital heart disease, genitourinary abnormalities, and syndactyly of the toes.[] Chest radiography is important in looking for congenital heart disease and/or congenital pulmonary abnormalities.[]

  • Miller Dieker Syndrome

    dimples, joint contractures, and abnormal genitalia in males. [6] Miller-Dieker syndrome is undoubtedly a rare condition.[] Prenatal ultrasonography findings in MDS are smooth gyral pattern, ventriculomegaly, large subarachnoid space, congenital heart disease and omphalocele [6] [7] .[] Additionally, congenital anomalies such as omphalocele and heart defects are also identified prenatally.[]

  • Wiedemann-Steiner Syndrome

    dimple, hypertrichosis.[] heart disease and transposition of the great arteries Congenital short-bowel syndrome Corpus callosum, agenesis of, with abnormal genitalia Cortical malformations, occipital[] dimple (HPO:0000960) – – – – – 4/16; 25% Absent palmar proximal transverse creases (HPO:0010489) – – – – – – 2/16; 13% Deep palmar crease (HPO:0006191) – – – – – – – 1/16[]

  • Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome

    A sacral dimple prompted an MRI of the spine which showed a low lying conus medullaris at the lower aspect of L2 (fig 1).[] Prevalence of congenital heart disease in iran: a clinical study. J Med Sci. 2008; 8 (6): 547-52 13.[] , congenital heart diseases, retinopathy of prematurely, Down syndrome and other defects and diseases in government or private maternity homes.[]

  • Dubowitz Syndrome

    Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[] For example, echocardiography is needed in the setting of congenital heart diseases (CHDs), whereas a complete laboratory workup with an immunological profile in case frequent[] Skeletal abnormalities in DS include sacral dimple, and clinodactyly (5th fingers), with cutaneous syndactyly of toes or fingers.[]

  • Prieto Syndrome

    dimple in lower back * Clinodactyly * Partially dislocated knee * Subcortical cerebral atrophy * Abnormal walk * Low set ears * Abnormal dermatoglyphics * High forehead *[] heart disease with left-to-right shunts increasing the pulmonary hydrostatic pressure; presence of chronic upper airway obstruction resulting in hypoxia, pulmonary vasoconstriction[] […] and symptoms mentioned in various sources for Mental retardation X-linked dysmorphism includes the 20 symptoms listed below: * Mental retardation * Abnormal tooth growth * Skin[]

  • DiGeorge Syndrome

    Aidan had a sacral pit—a dimple on his lower back—and low set ears.[] Abstract DiGeorge syndrome is the second commonest cause of congenital heart disease after trisomy 21.[] The prevalence of DiGeorge syndrome in the number of admissions for congenital heart disease among the neonates at our hospital was 3.14%.[]

  • Pentalogy of Cantrell

    Additional observations included a rather elongated skull, enlarged first toes and a deep sacral dimple ( Figure 3 ).[] Pentalogy of Cantrell (PoC) is a rare congenital midline defect. We present a case and its treatment of PoC with complete ectopia cordis and congenital heart disease.[] Abstract Pentalogy of Cantrell is a rare congenital anomaly characterised by deficiency of midline mesodermal structures with congenital heart disease.[]

  • Emanuel Syndrome

    dimple, severe hearing impairment, unilateral renal agenesis, ventricular septal defect (hole in the wall separating the two lower chambers of the heart), facial asymmetry[] The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease[] Sacral dimple is common. Congenital hip dislocation or subluxation is common. Arachnodactyly and tapering fingers are characteristic.[]

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