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246 Possible Causes for Growth Retardation, Hypoplastic Phalanges

  • 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] […] terminal phalanges Synonyms & Alternative Spellings[web.archive.org] […] terminal phalanges Promoted articles (advertising)[radiopaedia.org]

  • Gorlin-Chaudhry-Moss Syndrome

    When intrauterine growth retardation is observed, the cause most likely is attributable to the genotype.[symptoma.com] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly , absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] […] distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis.[uniprot.org]

  • Trichorhinophalangeal Syndrome

    The following is a case report of TRPSII with incomplete penetrance in the index case and exostoses and growth retardation in the patient's two siblings.[ncbi.nlm.nih.gov] Hand radiographs show shortening of phalangeal bones, typical cone-shaped epiphyses (Giedion type 12), and premature epiphyseal fusion.[link.springer.com] Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia.[ncbi.nlm.nih.gov]

  • Hereditary Hyperphosphatasia

    Growth retardation, frequent fractures, and low bone density ( osteopenia ) are common.[en.wikipedia.org] The distal phalanges are hypoplastic, and the terminal tufts are absent. 9. Fig B 5-7 Melorheostosis.[slideshare.net] Hormone Deficiency, Isolated Partial 1 Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 1 Gtp Cyclohydrolase I Deficiency 1 Gyrate Atrophy of Choroid[preventiongenetics.com]

  • 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] The hands are wide and short with phalanges of diminishing width, dermatoglyphics are not characteristic.[ojrd.biomedcentral.com] Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs[ncbi.nlm.nih.gov]

  • Fetal Hydantoin Syndrome

    This pattern of altered growth and development includes growth retardation, craniofacial anomalies, distal phalangeal hypoplasia, and mental deficiency.[ncbi.nlm.nih.gov] Fetal Hydantoin syndrome mnemonic - PHENytoin Fetal hydantoin syndrome involves microcephaly, dysmorphic craniofacial features, hypoplastic nails, hypoplastic distal phalanges[medicowesome.com] […] nails and distal phalanges ( birth defects ).[ipfs.io]

  • Dubowitz Syndrome

    The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance,[ncbi.nlm.nih.gov] […] nails and distal phalanges (birth defects).[fetuswinning.blogspot.com] […] syndrome Human disease Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly[wikidata.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.[ncbi.nlm.nih.gov] Short first metacarpals Small iliac wings V-shaped flaring of distal femoral metaphyses Thorax Hypoplastic scapulae (in some patients) Long, slender, straight clavicles ([datagenno.com] Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly[ncbi.nlm.nih.gov]

  • Dihydropyrimidinuria

    , microcephaly, autism, and growth retardation.[ommbid.mhmedical.com] Although symptomatic patients show dysmorphic features and experience seizures, mental retardation, and growth retardation, asymptomatic patients have been identified, and[journals.plos.org] One form is an inborn error of metabolism that has onset early in life and features one or more of the following symptoms: convulsions, psychomotor retardation, hypertonicity[ommbid.mhmedical.com]

  • BOD Syndrome

    retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Malar flattening Zygomatic flattening 0000272 Pointed chin Pointy chin Small pointed chin[rarediseases.info.nih.gov] Pre- and postnatal short stature, hypoplastic fifth digits with abnormal phalanges and tiny fingernails, facial dysmorphism, and, in some, mild intellectual impairment were[bio2rdf.org] […] to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes may be involved as well.[cambridge.org]

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