Osteogenesis Imperfecta
The sclera have variable hues. In utero fractures are common. Limb shortening and progressive deformities can occur.[web.archive.org]
Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[ncbi.nlm.nih.gov]
[…] congenital disorders is caused by a glycine substitution in the procollagen molecule?[orthobullets.com]
Cleidocranial Dysplasia
[…] numbers of supernumerary teeth along with dental crowding, and malocclusion Hand abnormalities including brachydactyly, tapering fingers, and short, broad thumbs Short stature[ncbi.nlm.nih.gov]
Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[nlm.nih.gov]
Tachdjian's Pediatric Orthopaedics . 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[mountsinai.org]
Pyle's Disease
[…] weakness; - scoliosis, genu valgum deformity, dental / malocclusion and bone fragility; - marked expansion of the metaphyseal segments of tubular leads to an "Erlenmeyer[wheelessonline.com]
Radiology) v · d · e Genetic disorder , membrane: cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism[en.academic.ru]
External links Metaphyseal chondrodysplasia, Jansen type — OrphaNet Information (PDF) Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics Jansen Type Metaphyseal[checkrare.com]
King Syndrome
The presence of a myopathy associated with a predisposition to malignant hyperthermia suggests an autosomal dominant pattern of inheritance with variable expression.[zdoc.site]
"Nature of auditory processing disorder in children". Pediatrics. 126 (2): e382–390. doi : 10.1542/peds.2009-2826. PMID 20660546.[en.wikipedia.org]
Obstetrical and Pediatric Anesthesia 428 Downloads 7 Citations Abstract Purpose The King-Denborough syndrome (KDS) is a rare disorder that is associated with myopathy, susceptibility[link.springer.com]
Schmid Metaphyseal Chondrodysplasia
[…] weakness; - scoliosis, genu valgum deformity, dental / malocclusion and bone fragility; - marked expansion of the metaphyseal segments of tubular leads to an "Erlenmeyer[wheelessonline.com]
External links Metaphyseal chondrodysplasia, Jansen type — OrphaNet Information (PDF) Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics Jansen Type Metaphyseal[checkrare.com]
External links Metaphyseal chondrodysplasia, Jansen type -- OrphaNet Information (PDF) Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics Jansen Type Metaphyseal[ipfs.io]
Renpenning Syndrome
In puberty there is pronounced growth of testes. abnormal speech pattern, large ears, long face, high-arched palate, and malocclusion.[whonamedit.com]
One typical immune reaction in infants and children is PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infection, another disorder[wikivisually.com]
Intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest and developed by a renowned pediatric neurologist with more[books.google.de]
Temporomandibular Joint Disorder
[…] of variable degree and duration.[emedicine.medscape.com]
J Clin Pediatr Dent 25:191–194 PubMed Google Scholar 9.[doi.org]
Pediatrics. 2000, 106: 184-190.[doi.org]
Microtia
Facial asymmetry, malocclusion, facial nerve palsy, and macrostomia as well as thoracic deformities can also accompany MI.[symptoma.com]
[…] voice and airway disorders including respiratory papillomatosis and subglottic stenosis pediatric sinus disease advanced surgery for obstructive sleep apnea facial nerve[floatinghospital.org]
Balance and Vestibular Disorders Clinic Digestive Health Pediatric Endoscopy Surgery Pediatric General Surgery Digestive Health Pediatric Liver Center Pharmacy Services Surgery[childrenscolorado.org]
Dental Caries
Dental caries experience, malocclusion, and traumatic dental injuries were used as independent variables.[ncbi.nlm.nih.gov]
Abstract Attention-deficit/hyperactivity disorder (ADHD) is characterized by inappropriate levels of hyperactivity, impulsivity, and/or inattention.[ncbi.nlm.nih.gov]
Dentistry, Department of Pediatric Dentistry, Belo Horizonte, MG, Brazil. 2 Universidade Federal dos Vales do Jequitinhonha e Mucuri - UFVJM, School of Dentistry, Department of Pediatric[ncbi.nlm.nih.gov]
Kohlschütter-Tönz Syndrome
[…] in muscle fiber diameter Abnormal isoelectric focusing of serum transferrin Delayed myelination Poor suck Deep palmar crease Nail dysplasia Trigonocephaly Dental malocclusion[mendelian.co]
; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, spasticity, epilepsy, and amelogenesis imperfecta.[semanticscholar.org]
[…] of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation, European Journal of Pediatrics , 1990 , 149 , 7, 465 CrossRef 18 Joel Zlotogora , David BenEzra[onlinelibrary.wiley.com]