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29 Possible Causes for Delayed Acquisition of Motor Skills, High Pitched Voice, Mild Rib Sclerosis, nasal

  • Mowat-Wilson Syndrome

    Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes.[] The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[] A high pitched voice was a consistent finding, even in those patients who have not had previous laryngeal problems.[] […] bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[]

    Missing: Mild Rib Sclerosis
  • Rigid Spine Syndrome

    […] speech Nasal voice 0001611 Nocturnal hypoventilation 0002877 Nonprogressive 0003680 Reduced vital capacity 0002792 Restrictive deficit on pulmonary function testing 0002111[] Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[] Respiratory difficulties required him to be on nasal oxygen supplementation.[] : nasal, high-pitched voice Clinical features from OMIM: 602771 UMLS symptoms related to Rigid Spine Muscular Dystrophy 1: generalized muscle weakness, facial paresis MGI[]

    Missing: Mild Rib Sclerosis
  • Achondroplasia

    […] bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [2] This gene provides instructions[] Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[] Clinical examination prior to PSG revealed hypertrophied tonsils in 11/24 patients (45.8%), disturbed nasal breathing in 8/24 patients (33.3), and enlarged cervical lymph[] Cranial relatively large cranial vault with small skull base prominent forehead with the depressed nasal bridge narrowed foramen magnum cervico-medullary kink relative elevation[]

    Missing: High Pitched Voice
  • Congenital Muscular Dystrophy

    KEYWORDS: Dexmedetomidine; Muscular dystrophy, congenital; Oxygen, high-flow nasal; Pregnancy; Sugammadex[] Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although[] […] the face. (159000) type ib (lgmd1b) synonym: proximal limb-girdle muscular dystrophy type 1b a slowly progressive form of muscular dystrophy differing from lgmd1a by the nasal[] Other common features include hydrocephalus and dysmorphic face (short nasal bridge, micrognathia, and midface hypoplasia) 184.[]

    Missing: Mild Rib Sclerosis
  • Multicore Myopathy with External Ophthalmoplegia

    These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above[] A high-pitched voice and myopathic facial features are common, occasionally associated with a high-arched or cleft palate.[] She has continued touse nasal ventilation each night at home.[] 0001376 22 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272 23 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411 24 prominent nasal[]

    Missing: Mild Rib Sclerosis
  • Cole-Carpenter Syndrome

    Return to Directory Studies host defense of human mucosal surfaces, with particular emphasis on Staphylococcus aureus nasal carriage, and HIV transmission and pathogenesis[] Therapists facilitate the acquisition of gross motor skills progressively through play, the use of specialist equipment and functional tasks.[] pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia[] […] morphology Epicanthus inversus Large fleshy ears Caudal appendage Limited pronation/supination of forearm Prominent coccyx Seizures Epicanthus Wide nasal bridge Upslanted[]

    Missing: Mild Rib Sclerosis
  • Central Core Disease

    On physical examination, she had a high-arched palate, nasal tone vocalization, a positive Gowers' sign, waddling gait, and decreased deep tendon reflexes.[] A high-pitched voice and myopathic facial features are common, occasionally associated with a high-arched or cleft palate.[]

    Missing: Mild Rib Sclerosis
  • Insulin-Like Growth Factor Type 1 Deficiency

    […] patient p12-p24 inverted - Microcephaly, large anterior fontanel - Short stature, psychomotor delay - Hypertelorism, deep-set eyes, down-set ears, bulbous nose tip, broad nasal[] These patients also showed high pitched voice and sparse hair.[] They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles.[] 85 [17] p12-p24 tandem - Microcephaly, brachycephaly, large anterior fontanelle - Short stature - Hypertelorism, antimongoloid slant of eyes, cup-shaped ears, prominent nasal[]

    Missing: Mild Rib Sclerosis
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] bridge Wide nasal bridge Macrocephaly Anteverted nares Congenital onset Micropenis Oxycephaly Abnormality of the forearm Need help with a diagnosis?[] […] if extreme obesity is avoided Angelman syndrome Clinical features Delayed mental development and acquisition of motor skills in infants and young children In more than 80%[] […] subluxation of lens Homocysteine and methionine measurements, dilated eye examination Klinefelter syndrome (XXY) Delayed puberty; infertility; small, firm testes; gynecomastia; high-pitched[] The nasal tip is broad and the nares are anteverted.[]

    Missing: Mild Rib Sclerosis
  • Autosomal Dominant Mental Retardation Type 21

    Note the facial dysostosis and severe maxilla-nasal hypoplasia. Photograph (c) and radiograph (d) of the left hand.[] There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[] Patients with FHS tend to have an unusually high-pitched voice.[] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[]

    Missing: Delayed Acquisition of Motor Skills

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