A new case of Myhre syndrome

Clinical Dysmorphology

Volumn 10, Issue 2, 2001, Pages 135-140

  Whiteford, M L ^a,b   Doig, W B ^a,b   Raine, P A M ^a,b   Hollman, A S ^a,b   Tolmie, J L ^a,b  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Cardiac defect; Mental retardation; Myhre syndrome; Short stature

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPERTROPHY; MYHRE RUVALCABA SYNDROME; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; SHORT STATURE; SKULL RADIOGRAPHY; SPINE RADIOGRAPHY; SYNDROME DELINEATION;

EID: 0035085238     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200104000-00011     Document Type: Article

References (8)

1. Myhre-GOMBO syndrome: Possible lumping of two "Old" new syndromes?
2. Microphthalmia, marked short stature, hearing loss and developmental delay: Extension of the phenotype of GOMBO syndrome?
3. The Myhre syndrome: Report of two cases
4. Familial dwarfism and "stiff joints"
5. A new growth deficiency syndrome
6. A new syndrome of short stature, joint limitation and muscle hypertrophy
7. GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly and oligophrenia: A possible new recessively inherited MCA/MR syndrome
8. GOMBO syndrome: Another "pseudorecessive" disorder due to a cryptic translocation