- Microphthalmia–dermal aplasia–sclerocornea syndrome.
- Also known as Gazali-Temple syndrome.
- Condition characterized by linear skin lesions of dermal aplasia.
- It can be associated with the HCCS gene.
- Inter- and intrafamilial variability is considerable.
- Characterized by unilateral or bilateral microophthalmia &/or anophthalmia.
- Linear skin defects, usually involving the face & neck.
- The dermal aplasia is present at birth & heals with age, but leaves mild residual scarring.
- Heart defects - hypertrophic cardiomyopathy, oncocytic cardiomyopathy, & arrhythmias)
- Central nervous system involvement - structural anomalies & infantile seizures.
- Developmental delay
- Short stature
- Diaphragmatic hernia
- Nail dystrophy
- Preauricular pits & hearing loss
- Genitourinary malformations
Posted by Medicalchemy
Medicalchemy Group: History of Medicine - Images - Mnemonics - Syndromes - Acute Medicine - Anaesthesiology - Anatomy - Anthropology - Biochemistry - Cardiology - Dentistry - Dermatology - Drug ADR - Drugs - Embryology - Emergency Medicine - Endocrinology - Epidemiology - Family Medicine - Forensic Medicine - Gastroenterology - Genes - Genetics - Geriatrics - Gynecology - Haematology - Health Informatics - Hepatology - Immunology - Infection - Intensive Care - Medical Dictionary - Medical Education - Medical Statistics - Metabolic Medicine - Microbiology - Nephrology - Neuroanatomy - Neuroscience - Nuclear Medicine - Nutrition - Obstetrics - Occupational Health - Oncology - Ophthalmology - Orthopaedics - Otolaryngology - Paediatrics - Palliative Care - Parasitology - Pathology - Pharmacology - Physiology - Proteomics - Psychiatry - Public Health - Radiology - Respiratory - Rehabilitation - Rheumatology - Sports Medicine - Surgery - Toxicology - Tropical Medicine - Urology - Vascular - Virology.
No comments:
Post a Comment