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2,293 Possible Causes for Craniosynostosis, Nail Hypoplasia, Polychromasia in Peripheral Blood Smear

  • Congenital Dyserythropoietic Anemia Type 1

    Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells[unboundmedicine.com] It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis.[genecards.org] There were multiple anomalies, including nail hypoplasia/aplasia and syndactyly of the feet (Figs. 1A and B).[journals.lww.com]

    Missing: Craniosynostosis
  • 3M Syndrome Type 1

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com] Fetal alcohol syndrome: microcephaly-decreased subcutaneous fat, hirsutism, nail hypoplasia, facial appearance and mental retardation with significant behavioural problems[ncbi.nlm.nih.gov] Fetal alcohol syndrome : Microcephaly decreased subcutaneous fat, hirsutism, nail hypoplasia, facial appearance, and mental retardation with significant behavioural problems[nature.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Pallister-Hall Syndrome

    Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[ojrd.biomedcentral.com] hypoplasia.[ncbi.nlm.nih.gov] […] distal shortening of limbs radial subluxation postaxial polydactyly oligodactyly short 4th metacarpals syndactyly postaxial polydactyly midline facial capillary hemangioma nail[humpath.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Crouzon Syndrome

    Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca] , prognathism, a beaked nose and hypoplasia of the maxilla, fusion of the fingers with single nails and short broad thumbs, thus giving the hands a mitten-like appearance,[whonamedit.com] Craniosynostosis: genes and mechanisms.[ncbi.nlm.nih.gov]

    Missing: Polychromasia in Peripheral Blood Smear
  • Mandibulofacial Dysostosis

    In conclusion, in children with syndromic or complex craniosynostosis, diagnosing OSA using home cardiorespiratory monitoring is feasible.[doi.org] V.5 had nail hypoplasia on both fifth toes and mild scoliosis, to the left, of the thoracic spine.[jmg.bmj.com] Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Saethre-Chotzen Syndrome

    Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] There was flexion contraction of 4 th and 5 th toe of left foot and 4 th toe of right foot (b) clinical photograph of hand showing broadened right thumb and nail Clinical[ncbi.nlm.nih.gov] Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca]

    Missing: Polychromasia in Peripheral Blood Smear
  • Acrocephalopolysyndactyly

    […] sagittal craniosynostosis lambdoid sutures craniosynostosis pilonidal dimple absent coccyx spina bifida occulta scoliosis coxa v alga decreased hip-joint mobility flared[humpath.com] Apert–Crouzon syndrome type IIa acrocephalosyndactyly characterized by features of Carpenter's syndrome with additional craniofacial dysostosis, maxillary hypoplasia, and[medical-dictionary.thefreedictionary.com] * Англо-русский медицинский словарь См. также в других словарях: acrocephalopolysyndactyly — A group of congenital syndromes characterized by abnormal skull shape due to craniosynostosis[translate.academic.ru]

    Missing: Polychromasia in Peripheral Blood Smear
  • Gorlin-Chaudhry-Moss Syndrome

    [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[ncbi.nlm.nih.gov] […] and Nail Defects Hypertrichosis, Congenital Generalized, With or Without Gingival Hyperplasia Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Agenesis of the Corpus[nfed.org] De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.[ghr.nlm.nih.gov]

    Missing: Polychromasia in Peripheral Blood Smear
  • Hypomandibular Faciocranial Dysostosis

    This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition.[ncbi.nlm.nih.gov] Hirschsprung nail hypoplasia dysmorphism[?] Hirschsprung's disease[?] Hirsutism congenital gingival hyperplasia[?] Hirsutism skeletal dysplasia mental retardation[?][encyclopedia.kids.net.au] hypoplasia dysmorphism Hirschsprung's disease Hirsutism congenital gingival hyperplasia Hirsutism skeletal dysplasia mental retardation His bundle tachycardia Histidinemia[starrepublic.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Symptoms - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus The list of signs and symptoms mentioned in various sources for Craniosynostosis, sagittal[checkorphan.org] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[wikigenes.org] (A) The newborn hand showing camptodactyly, hypoplasticterminal phalanges and absent nail on the fifth digit. (B) Hand X-rays.[docslide.com.br]

    Missing: Polychromasia in Peripheral Blood Smear

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