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167 Possible Causes for Delayed Speech and Language Development, Pallor, Round Face

  • Mucopolysaccharidosis

    […] was good Patient’s personal hygiene was well maintained Patients was well hydrated Absence of edema General appearance: - Coarse facial appearance - Flat nasal bridge - Pallor[]

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[] Coarsening of facial features – the result of macroglossia, prominent supraorbital ridges, a broad nose, a broad nasal bridge, and deposition of GAG in the soft tissues of the face[]

  • Foster-Kennedy Syndrome

    Speech and language development is often the area of greatest delay.[] The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction[] Ocular evaluation should include fundus examination to determine the degree of papillary edema and observe disk swelling or pallor, nerve fiber layer evaluation with red-free[]

  • Propionic Acidemia

    Examination of the brain of the 35-month-old boy showed vascular and parenchymal mineralization, focal pallor and spongy change, and foci of acute neuronal injury.[] It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[] All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic[]

  • Dubowitz Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[] There was easy bruising and pallor with pancytopenia (Hgb 6.9 gm/dL; MCV 104 fL; WBC 2.1 K/µl; platelets 10 K/µl; fetal hemoglobin 7.3%). She was transfusion-dependent.[] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[]

  • Growth Failure

    Evaluation of psychomotor development disclosed severely delayed language skills (delayed motor speech production, hypernasality and restricted vocabulary).[] […] at night past early infancy excessive sweating extreme crankiness improved by feeding difficulty waking up in the morning or extreme lethargy when ill and not able to eat pallor[] , a temporal fat pad, round face, diabetes and other symptoms listed below.[]

  • Autosomal Dominant Prognathism

    speech and language development 33 HP:0000750 7 visual impairment 33 HP:0000505 8 cone-shaped epiphysis 33 HP:0010579 9 reduced visual acuity 33 HP:0007663 10 telecanthus[] Abnormality of skin pigmentation Papule Pruritus Prominent forehead Congenital onset Hydrocephalus Hypermelanotic macule Periorbital fullness Delayed puberty Arrhythmia Pallor[] , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Cerebral atrophy Delayed speech and language development Clonus Gliosis Myoclonus Death in infancy Polyhydramnios Cerebellar hypoplasia Neuronal loss in central nervous system[] […] included macular alterations (gross pigment mottling and/or chorioretinal atrophy in fifteen eyes (75.0%, and optic nerve abnormalities (hypoplasia with double-ring sign, pallor[] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[]

  • Chromosome 19q13.11 Deletion Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[] At the age of 2 months he was referred to a paediatric clinic because of pallor.[] Patient 2 at 8 years of age showing round face with narrow and up-slanting palpebral fissures, thick eyebrows medially sparse, puffy checks, columella below alae nasi, short[]

  • Sotos Syndrome

    […] in motor and speech development, generalized clumsiness, and awkward gait.[] Sotos syndrome may be associated with optic disk pallor and retinal atrophy.[] Infants have a round face with prominent forehead and small chin.[]

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