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109 Possible Causes for Apparent Macrocephaly

  • Wiedemann-Rautenstrauch Syndrome

    OFC was normal despite apparent macrocephaly.[ncbi.nlm.nih.gov] macrocephaly, small face, prognathism, micrognathia, microstoma, low-set ears, high forehead, decreased eyebrows, sparse hair, sparse eyebrows, sparse eyelashes, prominent[accessanesthesiology.mhmedical.com] All 3 had short stature, failure to thrive, progeroid appearance, apparent macrocephaly with frontal and parietal bossing, wide fontanels and sutures, prominent scalp veins[omim.org]

  • Arthrogryposis Multiplex Congenita

    Rajab et al. (2005) suggested that their patients could be classified as having Escobar syndrome type B because of the apparently recessive inheritance, short stature, relative[cags.org.ae] macrocephaly, distinct facial appearance, camptodactyly, congenital foot deformities, and similar skeletal abnormalities such as vertebral defects, scoliosis, and joint dislocations[cags.org.ae]

  • Autosomal Dominant Prognathism

    Alternatively, a apparently increased size of the cranium.[ncbi.nlm.nih.gov] Macrocephaly MedGen UID: 745757 • Concept ID: C2243051 • Finding Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched[ncbi.nlm.nih.gov]

  • Hereditary Hyperekplexia

    Alternatively, a apparently increased size of the cranium.[amp.pharm.mssm.edu] […] stationary night blindness, type 1F Congenital stationary night blindness, type 1E Familial pulmonary capillary hemangiomatosis Protein S deficiency Deficiency of glycerol kinase Macrocephaly[amp.pharm.mssm.edu]

  • Mucopolysaccharidosis

    Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd9data.com] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com] The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age.[icd9data.com]

  • Skeletal Dysplasia

    In achondroplasia the dwarfism is readily apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth.[en.wikipedia.org]

  • Legius Syndrome

    It is characterized mainly by café au lait macules, axillary freckling, and macrocephaly. Dr.[medscape.com] Banayan-Riley-Ruvalcaba Syndrome Multiple lipomas and hemangiomas, macrocephaly, pigmented macules of the glan penis, cognitive deficit; autosomal dominant.[scielo.br] Messiaen and colleagues point out that although a diagnosis may become apparent over time, it can be uncertain for individuals who do not develop multiple signs.[medscape.com]

  • Macrocephaly

    OBJECTIVES: To compare the outcomes of fetuses with apparently isolated macrocephaly and those with associated findings, and to compare prenatal findings with postnatal diagnoses[ncbi.nlm.nih.gov] Macrocephaly with short stature is characteristic. Alopecia, delayed closure of the anterior fontanel, and apparent thickening of the cortex in long bones may be seen.[disorders.eyes.arizona.edu] (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason (sporadically).[rarediseases.org]

  • Hypertelorism

    Abstract We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    Apparently, our series is the first to report macrocephaly (six cases).[ncbi.nlm.nih.gov]

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