VAN DER HOEVE-DE KLEYN SYNDROME

AUTO D —-1/10,000

VARIABLE EXPRESSION—–CONGENITA—USUALLY FATAL IN UTERO

TARDA—–EARLY CHILDHOOD ONSET—FRAGIL BONES, LOOSE LIGAMENTS, HIGH INCIDENCE OF PATHOLOGIC FRACTURES, KYPHOSCOLIOSIS, PECTUS EXCAVATUM, WEEK JOINTS, DENTAL ABNL (DENTINOGENESIS IMPERFECTA = BLUE TEETH), WORMIAN BONE IN DKULL, TRIANGULAR FACIES, HIGH ARCHED PALATE, OCCASIONAL CAPILLARY FRAGILITY

ELECTOLYTES ARE NL—-BASICALLY AN ABNL IN OSTEOBLASTIC ACTIVITY

SCLERA—40% GREY OR WHITE—ASSOC SNHL

60% OR MORE —BLUE SCLERA—CHL ASSOC WITH PRIMARILY STAPES FIXATION AND SECONDARILY WITH INCUDOSTAPEDIAL JOINT SEPARATION OR LENTICULAR PROCESS Fx

SOME USE THE TERM VAN DER HOEVES TO DESCRIBE SPECIFICALLY OI WITH OTOSCLEROSIS