Biomaterial Database

Orbital oedema: an unusual presentation of Noonan's syndrome. 1993

W G Phillips, and M G Dunnill, and A R Kurwa, and M M Black

St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K.

We report a 52-year-old man who presented with severe chronic bilateral orbital oedema, and dysmorphic features characteristic of Noonan's syndrome. No recognized cause of the orbital oedema was found. This is the first report of late-onset orbital oedema in association with Noonan's syndrome, a condition known to be associated with widespread lymphatic hypoplasia and ectasia.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009634	Noonan Syndrome	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.	Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D009916	Orbital Diseases	Diseases of the bony orbit and contents except the eyeball.	Disease, Orbital,Diseases, Orbital,Orbital Disease
D002908	Chronic Disease	Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2).	Chronic Condition,Chronic Illness,Chronically Ill,Chronic Conditions,Chronic Diseases,Chronic Illnesses,Condition, Chronic,Disease, Chronic,Illness, Chronic
D003231	Conjunctivitis	INFLAMMATION of the CONJUNCTIVA.	Pink Eye,Conjunctivitides,Pink Eyes
D004487	Edema	Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.	Dropsy,Hydrops,Anasarca
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012628	Dermatitis, Seborrheic	A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS.	Seborrhea,Dermatitis Seborrheica,Seborrheic Dermatitis,Dermatitides, Seborrheic,Seborrheic Dermatitides