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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.[] CONCLUSION: These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.[] We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD.[]

  • 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[] Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects.[] defects, urinary tract malformations and brain, hearing and ophthalmologic malformations.[]

  • 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[] 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[] retardation in some blind, or near blind children.[]

  • Familial Short Stature

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

  • 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[] More rare features include cardiac defects and abdominal midline defects (omphalocele and diastasis recti).[] Limb-body wall complex lower limb lpl5 male mesenchymal dysplasia methylation midline defects Nicolaides OEIS complex OMIM omphalocele Omphalocele containing Omphalocele-exstrophy-imperforate[]

  • 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[] defects.[] 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[]

  • 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).[] It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[] Children experience growth retardation and short stature. [1] [6] Adrenocorticotropic hormone (ACTH) deficiency leads to adrenal insufficiency, a lack of production of glucocorticoids[]

  • 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[] Echocardiography Allows direct visualization of the defect spectrum and often a large defect of the midline heart structures are seen.[] growth and/or development, genital hypoplasia [males only], and endocardial cushion defect [a spectrum of septal defects resulting from imperfect fusion of the endocardial[]

  • 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[] The midline structural defects with nonfixation of the cecum and ascending colon, chronic constipation, and previous abdominal surgery might have been the predisposing factors[] 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.[]

  • 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[] Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired.[] retardation, recurrent sinus abnormalities, occurrence of syringomyelia, otitis media, conductive deafness, psychological trauma due to unpleasant smile, narrow high arched[]

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