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19 Possible Causes for Relative Macrocephaly in Childhood

  • Autistic Disorder

    Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov]

  • Legius Syndrome

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[ncbi.nlm.nih.gov]

  • Spastic Paraplegia

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor[ncbi.nlm.nih.gov] Neurologic features become more apparent in early childhood and progress slowly. Early developmental milestones.[ncbi.nlm.nih.gov]

  • Neurofibromatosis Type 1

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[web.archive.org]

  • Neurofibromatosis Type 2

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[web.archive.org]

  • Gorlin Syndrome

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] First degree relative with NBCCS Minor criteria Childhood medulloblastoma (also called primitive neuro-ectodermal tumor [PNET]) Lympho-mesenteric or pleural cysts Macrocephaly[en.wikibooks.org] […] individuals with the following: lamellar (sheet-like) calcification of the falx jaw keratocyst(s) palmar/plantar pits (two or more) multiple basal cell carcinomas first-degree relative[invitae.com]

  • Autosomal Recessive Spastic Paraplegia Type 20

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor[ncbi.nlm.nih.gov] Neurologic features become more apparent in early childhood and progress slowly. Early developmental milestones.[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] The facial gestalt may be easier to recognize in early childhood.[nature.com]

  • Multiple Congenital Anomalies

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] The facial gestalt may be easier to recognize in early childhood.[nature.com]

  • Hyperextensible Joints

    This review has found that in TS 39.7% of cases had relative macrocephaly with an SDS difference 1.5.[nanopdf.com] Hydrocephalus developing in the first few months of life was reported in four cases, which resolved spontaneously.1 10 11 29 Of note, relative macrocephaly (TS mean birth OFC[docksci.com] Hydrocephalus developing in the first few months of life was reported in 4 cases, which resolved spontaneously.[1,10,11,29] Of note, relative macrocephaly (TS mean birth OFC[nanopdf.com]

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