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1,008 Possible Causes for Growth Retardation, Midline Defects

  • Panhypopituitarism

    Growth retardation may become evident in infancy and persists throughout childhood.[myvmc.com] CONCLUSION: These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.[ncbi.nlm.nih.gov] We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD.[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects.[ncbi.nlm.nih.gov] defects, urinary tract malformations and brain, hearing and ophthalmologic malformations.[ncbi.nlm.nih.gov]

  • Septo-Optic Dysplasia

    The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation[ncbi.nlm.nih.gov] Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated[ncbi.nlm.nih.gov] retardation in some blind, or near blind children.[dx.doi.org]

  • Familial Short Stature

    retardation.[ncbi.nlm.nih.gov] Multiple syndromic or dysmorphic features: abnormal facies, midline defects, body disproportions. Bone age: delayed by more than two standard deviations.[patient.info] Midline defects such as cleft palate may also be associated with panhypopituitarism or specific deficits in growth hormone or thyroid hormone production.[hawaii.edu]

  • Malpuech Syndrome

    Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate[ncbi.nlm.nih.gov] More rare features include cardiac defects and abdominal midline defects (omphalocele and diastasis recti).[disorders.eyes.arizona.edu] Limb-body wall complex lower limb lpl5 male mesenchymal dysplasia methylation midline defects Nicolaides OEIS complex OMIM omphalocele Omphalocele containing Omphalocele-exstrophy-imperforate[books.google.com]

  • Chromosome 18p Deletion Syndrome

    retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round face * Small lower jaw[checkorphan.org] defects.[journals.lww.com] View Article PubMed Google Scholar Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, Houang M: Midline defects in deletion[doi.org]

  • Anterior Pituitary Hypofunction

    The most common sign was CDI (polyuria and polydipsia, 100 %), and other symptoms included secondary amenorrhoea (1/7) and growth retardation (1/7).[link.springer.com] It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[icd10data.com] Children experience growth retardation and short stature. [1] [6] Adrenocorticotropic hormone (ACTH) deficiency leads to adrenal insufficiency, a lack of production of glucocorticoids[en.wikipedia.org]

  • Endocardial Cushion Defect

    We describe one case of endocardial cushion defect during the second trimester when a consultative fetal echocardiography was undertaken for fetal intrauterine growth retardation[ncbi.nlm.nih.gov] Echocardiography Allows direct visualization of the defect spectrum and often a large defect of the midline heart structures are seen.[radiopaedia.org] growth and/or development, genital hypoplasia [males only], and endocardial cushion defect [a spectrum of septal defects resulting from imperfect fusion of the endocardial[medical-dictionary.thefreedictionary.com]

  • CHARGE Syndrome

    CHARGE syndrome is a congenital disorder characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genital hypoplasia, ear anomalies, and/or hearing[ncbi.nlm.nih.gov] The midline structural defects with nonfixation of the cecum and ascending colon, chronic constipation, and previous abdominal surgery might have been the predisposing factors[ncbi.nlm.nih.gov] She explained that since our baby had mulitple (midline) defects it was likely they were caused by something more, possibily a syndrome or chromosomal abnormality.[yoocanfind.com]

  • Cleidocranial Dysplasia

    Epiphysiodesis of the greater trochanter has only previously been described in association with mild cases of coxa vara, but we are considering early growth retardation of[scielo.org.za] Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired.[ncbi.nlm.nih.gov] retardation, recurrent sinus abnormalities, occurrence of syringomyelia, otitis media, conductive deafness, psychological trauma due to unpleasant smile, narrow high arched[indjos.com]

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