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260 Possible Causes for Congenital Renal Anomaly, Craniosynostosis, Low Set Ears

  • Rubinstein-Taybi Syndrome

    The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies.[] , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[]

  • Isolated Brachycephaly

    It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital[] Solomon Karger Medical and Scientific Publishers , ٠٧‏/٠٣‏/٢٠١١ - 260 من الصفحات Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a[] […] hairline and eyelid ptosis (upper aperts) Autosomal recessive, mental impairment, brachycephaly, variable suture involvement, low-set ears, VSD/ASD in third of cases isolated[]

  • CHARGE Syndrome

    renal anomalies coronal clival cleft 7 CHARGE syndrome is thought to occur due to a disturbance in embryonic differentiation 35 th to 45 th day of gestation.[] CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.[] Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[]

  • Pallister-Hall Syndrome

    Other genitourinary abnormalities described in addition to microphallus and cryptorchidism are renal hypoplasia or agenesis and renal ectopia.[] Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[] Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set,[]

  • Gorlin-Chaudhry-Moss Syndrome

    […] dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association Warburg syndrome Weaver syndrome Weill-Marchesani[] [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[] She also had synophrys, low set ears, a tuft of hair on her nose, cleft tip of the nose, thin upper lip, downtumed corners of the mouth, high arched palate, webbing between[]

  • Apert Syndrome

    anomalies affecting the heart and is common in blue baby syndrome Genitourinary Polycystic pelvis Renal pelvis duplication Bladder neck necrosis Absence of a vagina Prominent[] We report a case of Apert syndrome confirmed by molecular genetic analysis in a newborn infant, who did not have craniosynostosis at birth.[] Low-set ears, with rare conductive hearing loss.[]

  • Familial Lambdoid Synostosis

    […] bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral[] We report the third case of inherited unilateral lambdoid craniosynostosis. The genetic pathogenesis of lambdoid craniosynostosis will be discussed.[] (droopy eyelids); low-set ears and minor irregularities at the top of the ear and in the earfolds; a ‘beaked’ nose and a septum (the partition between the nostrils) that[]

  • Isolated Trigonocephaly

    anomalies (BNAR) [MIM:608980]: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations.[] See illustrations of all types of craniosynostosis on the Symptoms of Craniosynostosis page. What Causes Craniosynostosis?[] Also note microphthalmos, short palpebral fissures, small mouth, micrognathia, and low-set malformed ears. (From Esmer et al. 2000) Syndromic Craniosynostosis.[]

  • Cole-Carpenter Syndrome

    Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT).[] RATIONALE: Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis[] The facial features are said to be distinctive with midface hypoplasia, low-set ears, micrognathia, and, of course, prominent globes.[]

  • Velocardiofacial Syndrome

    Frequent Clinical Findings in 22q11.2 Feature Frequency Developmental delay 90% Congenital heart disease 76% Palatal defects 76% Immunodeficiency 77% Hypocalcemia 49% Renal[] Craniosynostosis: another feature of the 22q11.2 deletion syndrome. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. McDonald-McGinn DM, Sullivan KE.[] […] eyes, hypertelorism or low-set ears.[]

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