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46 Possible Causes for Round Face in Infancy, X-Ray Abnormal

  • Glycogen Storage Disease Type 1

    Infants have a round “doll” face.[clinicaladvisor.com] Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound[ncbi.nlm.nih.gov] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

  • Weaver Syndrome

    […] umbilical hernia (100%) inguinal hernia (100%) excessive and loose skin of the neck or extremities (93%) cryptorchidism (60%) hyperbilirubinemia (50%) INVESTIGATIONS: Skeletal X-Rays[sites.google.com] X-ray cervical spine is necessary. Cervical spine anomalies represent a consistent radiographic finding in Weaver syndrome.[atlasgeneticsoncology.org] X-rays of other bones however look mostly normal, without an advanced development, and only infrequently with a somewhat abnormal shape.[marshallsmith.org]

  • Laryngeal Lesion

    These patients' faces are round with hypertelorism and a broad nasal root. Cleft lip/palate is observed occasionally (see the image below).[emedicine.medscape.com] All were suffering from pulmonary tuberculosis confirmed by abnormal chest x-rays, elevated ESR and predilection for laryngeal involvement was not demon- presence of acid[jpma.org.pk] The characteristic mewing cry (cat cry) occurs only during infancy.[emedicine.medscape.com]

  • Familial Hypospadias

    In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] This test uses X-rays to provide pictures of the urinary tract .[northshore.org] It may be used to check for other congenital abnormalities of the kidneys or the tubes that carry urine from the kidneys to the bladder (ureters). How is it treated?[northshore.org]

  • Laryngeal Disease

    These patients' faces are round with hypertelorism and a broad nasal root. Cleft lip/palate is observed occasionally (see the image below).[emedicine.medscape.com] (e.g., imaging of the neck). magnetic resonance imaging (MRI): Another type of scan that can detect abnormalities in the neck. chest X-ray: This test checks for any tumours[medbroadcast.com] The characteristic mewing cry (cat cry) occurs only during infancy.[emedicine.medscape.com]

  • Coats Plus Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Childhood x-rays show delayed carpal and tarsal ossification.[tsbvi.edu] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

  • Optic Atrophy-Intellectual Disability Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Childhood x-rays show delayed carpal and tarsal ossification.[tsbvi.edu] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

  • Cole-Carpenter Syndrome

    Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co] Diagnosis is typically based on medical imaging, including plain X-rays, and symptoms. Signs on medical imaging include abnormalities in all extremeties and the spine.[en.wikipedia.org] During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of internal structures.[rarediseases.org]

  • Larynx Atresia

    These patients' faces are round with hypertelorism and a broad nasal root. Cleft lip/palate is observed occasionally (see the image below).[emedicine.medscape.com] Chest x rays may be taken to look for skeletal and cardiac abnormalities. Abdominal x rays may be taken as well to look for intestinal obstruction and abnormalities.[healthofchildren.com] These dilated pockets appear as empty "cysts" in a chest x-ray. E.[web.duke.edu]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] […] spine in the neutral position; if no suspicious abnormalities are seen, they should have x-rays done in flexion and extension positions.[merckmanuals.com] face, widely spaced eyes, epicanthal fold, simian crease, severe mental retardation, long survival 30–60 VSD, ASD, PDA 22, 155, 156 Deletion 7q11.23 (Williams-Beuren syndrome[circ.ahajournals.org]

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