Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 1951-1957

  Faqeih, Eissa ^a   Al Akash, Samhar I ^b   Sakati, Nadia ^b   Teebi, Ahmad S ^c,d  

^a KING FAHAD MEDICAL CITY   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d WEILL CORNELL MEDICAL COLLEGE   (Qatar)

Author keywords

Arab; Coarse facies; Hypercalcemia; Hypercalciuria; MCA MR

Indexed keywords

CITRATE POTASSIUM; HYDROCHLOROTHIAZIDE; SODIUM;

ADOLESCENT; ADULT; ANXIETY; ARTICLE; AUTISM; AUTOMUTILATION; BEHAVIOR CHANGE; BEHAVIOR DISORDER; BLOOD CELL COUNT; BLUNTED AFFECT; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME ANALYSIS; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DEMYELINATION; DEPRESSION; FACE DEFORMITY; FACIES; FEMALE; GAIT DISORDER; HUMAN; HYDROCEPHALUS; HYPERACTIVITY; HYPERCALCEMIA; HYPERCALCIURIA; IMPULSIVENESS; IRON DEFICIENCY ANEMIA; JAUNDICE; KIDNEY CALCIFICATION; KIDNEY SIZE; KIDNEY TUBULE ACIDOSIS; LANGUAGE ABILITY; LYMPHOCYTOPENIA; MALE; METABOLIC ACIDOSIS; MICROCYTIC ANEMIA; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEINURIA; SHORT STATURE; SIBLING; SOCIAL DISABILITY; SOCIAL EVOLUTION; SOCIAL INTERACTION; TENDON REFLEX; ANION GAP; ARAB; AUTOSOMAL RECESSIVE DISORDER; CHEEK; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; DISEASE SEVERITY; EAR LOBE; ECHOGRAPHY; IMAGE ANALYSIS; KIDNEY DISTAL TUBULE; LOWER LIP; NEUROIMAGING; NEWBORN JAUNDICE; NOSE; PHILTRUM; PRESCHOOL CHILD; SAUDI ARABIA; SCHOOL CHILD; SYMPTOM; UPPER LIP;

ACIDOSIS, RENAL TUBULAR; ADOLESCENT; ADULT; BODY HEIGHT; CHILD; FACIES; FEMALE; GENES, RECESSIVE; HUMANS; KIDNEY TUBULES, DISTAL; MALE; MENTAL DISORDERS; NEPHROCALCINOSIS; NERVOUS SYSTEM DISEASES; SIBLINGS; SYNDROME;

EID: 34548361981     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31898     Document Type: Article

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