Bases de Dades de

Llicenciatura de Medicina

Universitat de Lleida

 Activitat Pràctica amb Bases de Dades

CAS 1

	CLINICAL SYNOPSIS   Skull : Craniosynostosis   Eyes : Shallow-orbits Proptosis Hypertelorism External strabismus   Facies : Parrot-beaked nose Short upper lip Hypoplastic maxilla Relative mandibular prognathism   Radiology : Pronounced digital impressions of skull Triangular optic foramen   Inheritance : Autosomal dominant	OTHER FEATURES Abnormally shaped teeth Absent auditory canal Acanthosis nigricans Brachycephaly Choanal atresia/stenosis Cleft palate Cleft uvula Convex/beaked profile of nose Cranial sutures, ridged Craniosynostosis Deafness, conductive Deafness, non-specific Fusion of vertebrae Hypertelorism Hypoplastic maxilla (excluding malar region) Kleeblattschadel/Clover-leaf skull Narrow/atretic auditory canal Oligodontia Optic atrophy Prominent eyes/proptosis Supernumerary teeth Tumour or cyst of the mandible
OMIM GeneCards Gene Atlas gens / malalties	Atlas of Genetics and Cytogenetics in oncology and haematology.	The Dysmorphic Human-Mouse Homology Database (DHMHD)

	CLINICAL SYNOPSIS   Growth : Failure to thrive in infancy and early childhood Rapid weight gain after 1 year Obesity Short stature   Head : Narrow bitemporal head dimension   Eyes : Almond-shaped eyes Strabismus Myopia   Mouth : Thin upper lip Down-turned corners of mouth Viscous saliva   Resp : Hypoventilation Hypoxia   GU : Hypogonadotropic hypogonadism Cryptorchidism Hypoplastic penis and scrotum Hypoplastic labia Amenorrhea   Skel : Scoliosis Kyphosis Osteopenia	Limbs : Small hands Narrow hands with straight ulnar border Small feet   Neuro : Neonatal hypotonia Mental retardation Behavioral problems Sleep disturbances Hyporeflexia Articulation difficulty Skin picking High pain threshold   GI : Poor neonatal feeding due to diminished swallowing and sucking reflexes Childhood polyphagia   Skin : Hypopigmentation   Misc : Poverty of fetal movements Temperature instability   Inheritance : Deletion or maternal uniparental disomy of 15q11.2-q12, often by correction of trisomy 15   OTHER FEATURES   Diabetes mellitus/hyperglycaemia Generalized obesity Hypertension Microcephaly Narrow forehead/temporal narrowing Palpebral fissures slant up Stature/length short, prenatal onset
OMIM GeneCards Gene Atlas gens / malalties	Atlas of Genetics and Cytogenetics in oncology and haematology.	The Dysmorphic Human-Mouse Homology Database (DHMHD)

CLINICAL SYNOPSIS   Skin : White forelock Absent pigmentation of medial forehead, eyebrows and chin Absent pigmentation of ventral chest, abdomen and limbs Hyperpigmented borders of unpigmented areas   Eyes : Heterochromia iridis   Oncology : Frequent epitheliomas	Ears : Occasional deafness   GI : Rare Hirschsprung disease   Inheritance : Autosomal dominant     OTHER FEATURES Patchy depigmentation of hair/white forelock Patchy depigmentation of skin
OMIM GeneCards Gene Atlas gens / malalties	Atlas of Genetics and Cytogenetics in oncology and haematology. The Dysmorphic Human-Mouse Homology Database (DHMHD)

CLINICAL SYNOPSIS   Skin : Epidermoid cysts Sebaceous cysts   Skull : Osteomas with associated skin fibromas   Mouth : Mandibular osteoma   GI : Multiple colonic polyps Multiple gastric polyps Multiple duodenal polyps Mesenteric fibromatosis   Eyes : Congenital hypertrophy of retinal pigment epithelium (CHRPE)   Oncology : Malignant transformation of polyps Periampullary carcinoma Hepatoblastoma Bile duct carcinoma Osteosarcoma Adrenal carcinoma with Cushing syndrome Thyroid carcinoma

Inheritance : Autosomal dominant   GI : Multiple colonic polyps Multiple gastric polyps Multiple duodenal polyps   Oncology : Colon carcinoma Periampullary carcinoma Hepatoblastoma Desmoids   Inheritance : Autosomal dominant   OTHER FEATURES Aplasia or dysplasia of retina Brain tumours/cysts Cartilaginous/bony exostoses Colonic tumours Diffuse increased pigmentation of skin Gastrointestinal tumour/polyp/haemangioma Liver cysts/tumours Other tumours of skin Pancreatic cysts/tumours Pigmentary retinopathy/chorioretinitis Skeletal cysts or tumours Skin cysts Spinal tumours Subperiosteal new bone formation Supernumerary teeth Thyroid tumours Tumour or cyst of the mandible

OMIM GeneCards Gene Atlas gens / malalties

Atlas of Genetics and Cytogenetics in oncology and haematology. The Dysmorphic Human-Mouse Homology Database (DHMHD)

pàgina anterior	inici pàgina	pàgina posterior	retorn