MeffordPublished online 17 May 20131726 Report of a Patient with Developmental Delay, Hearing Loss, Growth Retardation, and Cleft Lip and Palate and a Deletion of 7q34-36.1: Review of Distal 7q DeletionsEric T. Rush, Jadd M. Stevens, Warren G. [myslide.es]

Neurobehavioral manifestations Mild-moderate mental retardation (33%) Gross motor developmental delay (25%) Speech and language developmental delay (20-30%) Verbal performance discrepancy (15%) Seizures (13%) 7. [lymphedemapeople.com]

delay neurological abnormalities Hyperprolinemia Craniometaphyseal dysplasia, autosomal recessive type Omodysplasia 1 Stuve-Wiedemann syndrome Sonoda syndrome Chromosome 10q deletion Brachyolmia type 3 Achard syndrome Chondrodysplasia punctata Sheffield [checkrare.com]

Eur J Pediatr 144:348–354, 1985 Delleman–Oorthuys syndrome – oculocerebrocutaneous syndrome – membranous aplasia cutis, eyelid tag, periorbital tags, facial tags, orbital cysts, focal punched-out skin defects of the ala nasi, cerebral malformations, developmental [yumpu.com]

Developmental retardation with unusual facies, arthritis,and hearing impairment. Dysmorph Clin Genet 4:103109.CoroneoMT, Chui JJY. 2013. Pterygium In: Holland EJ,MannisMJ, BarryLee W, Ocular surface disease:Cornea, conjuntiva and tear film. [docslide.com.br]

Ophthalmologic manifestations Blepharoptosis (eyelid ptosis) Strabismus Cataracts Nystagmus Amblyopia Myopia 6. [lymphedemapeople.com]

[…] ocular late onset sensorineural deafness Gastroschisis Lipedema Hypotrichosis-lymphedema-telangiectasia syndrome Filippi syndrome Syndactyly type 3 Spastic paraplegia 31 Wrinkly skin syndrome Congenital pseudoarthrosis SHORT syndrome Deafness conductive ptosis [checkrare.com]

Number of published cases or families 77 Aniridia 1.3 I * 1069 Aniridia-absent patella syndrome 3 Cases 1065 Aniridia-cerebellar ataxia- intellectual disability syndrome 30 Cases 1068 Aniridia-intellectual disability syndrome 2 Cases 1067 Aniridia-ptosis-intellectual [azkurs.org]

Alopecia of the scalp, eyebrows, and eyelashes, aswell as prominent scalp veins were evident. [documents.tips]

[…] antibody deficiency 3 Cases 700 Alopecia totalis 10.5 P * 701 Alopecia universalis 25.0 P * 1005 Alopecia-contractures- dwarfism-intellectual disability syndrome 5 Cases 1008 Alopecia-epilepsy-pyorrhea- intellectual disability syndrome 12 Cases 1014 [azkurs.org]

[…] syndrome; collodion baby or ichthyosiform erythroderma; Blaschko pattern of erythroderma and scaling; plantar hyperkeratosis; resolves with time to reveal swirls of fine scale, linear hyperpigmentation, follicular atrophoderma of arms and legs, cicatricial alopecia [yumpu.com]

Reference work entry First Online: 28 June 2017 Abstract In 1886, Hutchinson (1886) described a boy with congenital alopecia, wrinkled atrophic skin, an odd facies, joint contractures, and normal intelligence. [doi.org]

McPherson Clemens syndrome Malignant hyperthermia susceptibility type 3 Oslam syndrome L-arginine:glycine amidinotransferase deficiency Lin-Gettig syndrome Alopecia-intellectual disability syndrome Tabatznik syndrome Persistent Mullerian duct syndrome [checkrare.com]

Symptoms - Progeroid syndrome- Penttinen type * Prematurely aged appearance * Delayed bone maturation * Delayed dental development * Bone degeneration in extremities * Short digits * Hard skin lesions * Hyperopia * Sensorineural hearing loss * Increased [checkorphan.org]

Biopsies of the skin lesions showed fibrosis without inflammation. Neurological evaluation and electromyographic study were normal. Serological tests for syphilis were negative. Calcium and phosphate levels in blood and urine were normal. [ncbi.nlm.nih.gov]

lesions that may result in digital necrosis. [5] : 665 See also [ edit ] Nail anatomy References [ edit ] a b Yu, Joseph. [en.wikipedia.org]

Serup, J, Clinical appearance of skin lesions and disturbances of pigmentation in localized scleroderma, Acta Derm Venereol 64 ( 1984 ) 485 – 492. 29. [plasticsurgerykey.com]

palmoplantar Page 476 and 477: Juvenile xanthogranuloma Dis Chest Page 478 and 479: SYNDROMES Alagille syndrome (arteri Page 480 and 481: Papular urticaria Roseola infantum Page 482 and 483: Irritant contact dermatitis Sea urc Page 484 and 485: Tanapox [yumpu.com]

At age 19 years he was diagnosedwith photosensitive dermatitis in his face needing treatment(methotrexate).On examination at age 19 years the proband was a normallyintelligent adolescent, height 167 cm(10th centile) andweight 60 kg(30th centile), and [docslide.com.br]

VCP mutation 9 Cases 199351 Adult-onset dystonia- parkinsonism 14 Cases 209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant 0.1 P * 183669 Agammaglobulinemia 0.13 P * 83617 Agammaglobulinemia- microcephaly-craniosynostosis- severe dermatitis [azkurs.org]

[…] proportionate with hip dislocation Fibular aplasia ectrodactyly Deafness, dystonia, and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and severe dermatitis [checkrare.com]

hair RHYNS syndrome Diabetes insipidus nephrogenic mental retardation and intracerebral calcification Propionic acidemia PAGOD syndrome Cone-rod dystrophy 3 Stickler syndrome Ostium secundum atrial septal defect Autosomal dominant cerebellar ataxia, [checkrare.com]

However, in Penttinen syndrome the affected individualsmay show somatic overgrowth, facial characteristics (sparse hair,retracted maxilla and pre-maxilla, and thin upper vermillion), anunusual thin and translucent skin, progressive acro-osteolysis,progressive [docslide.com.br]

hair Ped Derm 19:412–414, 2002; Eur J Pediatr 144:348–354, 1985 Delleman–Oorthuys syndrome – oculocerebrocutaneous syndrome – membranous aplasia cutis, eyelid tag, periorbital tags, facial tags, orbital cysts, focal punched-out skin defects of the ala [yumpu.com]

Collodion baby R Page 198 and 199: Dermatomyositis - eyelid edema JAAD Page 200 and 201: METABOLIC DISEASES Acrodermatitis e Page 202 and 203: vesiculopustules, red papules, crus Page 204 and 205: dermatitis, cribriform scrotal atro Page 206 and 207: urticaria [yumpu.com]

Methylmalonic aciduria, cblA type Dwarfism Microcephaly-albinism-digital anomalies syndrome Tyrosinemia type 2 Osteopetrosis autosomal recessive 1 Noonan syndrome Nathalie syndrome Familial hypocalciuric hypercalcemia type 1 Myosin storage myopathy Vibratory urticaria [checkrare.com]