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60 Possible Causes for Abdominal Distension, Delayed Speech and Language Development, Round Face

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    A male, 14 months aged patient, son of not consanguineous healthy immigrants parents from Colombia went to the emergency department of our hospital suffering abdominal distension[ncbi.nlm.nih.gov] If speech develops, it is delayed until mid-childhood or later.[mowat-wilson.org] Facial features include square-shaped face with deep-set, widely spaced eyes, broad nasal bridge with a rounded nasal tip and a prominent pointed c read more[ctgt.net]

  • Neuhauser Syndrome

    Anesthetic implications: preoperative echocardiography; check blood glucose, liver function and hemostasis; hypotrophic patient with abdominal distension; risk of difficult[sites.uclouvain.be] BRAIN MYELINATION NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia,[rgd.mcw.edu] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Growth Failure

    Figure 1: Typical Doll-like Facies with abdominal Distension due to Organomegaly.[innovationinfo.org] Evaluation of psychomotor development disclosed severely delayed language skills (delayed motor speech production, hypernasality and restricted vocabulary).[hormones.gr] , a temporal fat pad, round face, diabetes and other symptoms listed below.[csrf.net]

  • Duodenal Atresia

    After birth, duodenal atresia may cause abdominal distension, especially of the upper abdomen. Bilious vomiting commonly occurs within the first day of life.[en.wikipedia.org] Expressive language, grammar, and speech clarity: Because of delays in developing language comprehension, most children with Down syndrome are slow to master correct sentence[verywell.com] On physical examination found abdominal distension. Investigations at the prenatal period by using prenatal ultrasonography. Investigations that postnatal use a x-ray.[id.portalgaruda.org]

  • Congenital Macroglossia

    A: Remarkable fetal abdominal distension. B: Macroglossia. DISCUSSION BWS was first described by Beckwith in 1963 and by Wiedemann in 1964 (4) .[rb.org.br] speech and language development Dysarthria Wide nasal bridge Premature atrial contractions Frontal bossing Ventricular septal defect Abnormality of cardiovascular system[mendelian.co] In childhood, PHP was suspected in addition to elevated PTH, obesity, brachydactyly, and a rounded face.[pediatrics.aappublications.org]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    distension Pes cavus and scoliosis present in some patients Pigmentary retinopathy Laboratory findings Acanthocytosis on peripheral blood smears (constant finding) Decreased[emedicine.medscape.com] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] face-developmental delay syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic[se-atlas.de]

  • Autism

    For example, if one suspects that maldigestion or malabsorption is causing abdominal distension or is associated with self-injurious behavior, an upper endoscopy with measurement[dx.doi.org] The patient usually presents a clear history of impaired speech and language delay, which develops into final loss of acquired language skills.[symptoma.com] Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge[ncbi.nlm.nih.gov]

  • Platyspondyly

    Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly (summary by Egunsola et[ncbi.nlm.nih.gov] speech and language development Anteverted nares Accelerated skeletal maturation Polyhydramnios Mandibular prognathia Prominent forehead Gingival overgrowth Lymphedema Broad[mendelian.co] Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent[mendelian.co]

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