Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: A clinical and molecular study in three patients

Clinical Dysmorphology

Volumn 16, Issue 1, 2007, Pages 27-33

  Albano, Lilian M J ^a,c   Bertola, Débora R ^a   Barba, Mário F ^a   Valente, Marcelo ^a   Robertson, Stephen P ^b   Kim, Chong A ^a  

^a Instituto Da Cariança of University   (Brazil)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Filamin A; Hajdu Cheney syndrome; Melnick Needles syndrome; Serpentine fibula polycystic kidney syndrome

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MALFORMATION; BRACHYCEPHALY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC IMAGING; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FIBULA; FLNA GENE; FLNB GENE; FLNC GENE; FUNNEL CHEST; GENE; GENETIC SCREENING; HAJDU CHENEY SYNDROME; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIRSUTISM; HUMAN; HYPERTELORISM; HYPODONTIA; KIDNEY POLYCYSTIC DISEASE; MALE; MELNICK NEEDLES SYNDROME; OSTEOSCLEROSIS; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SERPENTINE FIBULA POLYCYSTIC KIDNEY SYNDROME; SYMPTOM; THORAX RADIOGRAPHY; TOOTH MALFORMATION; X CHROMOSOME LINKAGE;

EID: 33845643400     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000228418.74413.52     Document Type: Article

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