Biomaterial Database

Prenatal diagnosis of osteogenesis imperfecta type II. 1998

T Tongsong, and C Wanapirak, and S Siriangkul

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.

OBJECTIVE To characterize the prenatal sonographic features of osteogenesis imperfecta (OI) type II. METHODS Descriptive (case series). METHODS Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. METHODS Six fetuses with prenatal diagnosis of OI were evaluated. RESULTS Six fetuses were prenatally diagnosed as OI type II in five mothers without familial history of the disease. One mother had two consecutive pregnancies complicated with this condition. The first five cases were classified as OI type IIA, while the last one was OI type IIB. All of subtype A exhibited typical triad of bone shortening, diffuse hypomineralization and multiple fractures of long bones including beaded ribs whereas the subtype B showed shortening of only femurs, normal bone echodensity and isolated fractures of long bones. The postnatal radiography and autopsy confirmed the prenatal diagnosis in all cases. Other findings may occasionally be found, including polyhydramnios, oligohydramnios, hydrop fetalis and small for gestational age. CONCLUSIONS The triad of bone shortening, decreased bone density and numerous fractures including beaded ribs permits a confident diagnosis of OI type IIA. Furthermore, sonographic features may differentiate the subtype of OI type II, depending on degree of bone shortening and echodensity.

UI	MeSH Term	Description	Entries
D010013	Osteogenesis Imperfecta	COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.	Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011262	Pregnancy Trimester, Second	The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.	Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
D011263	Pregnancy Trimester, Third	The last third of a human PREGNANCY, from the beginning of the 29th through the 42nd completed week (197 to 294 days) of gestation.	Pregnancy, Third Trimester,Trimester, Third,Last Trimester,Last Trimesters,Pregnancies, Third Trimester,Pregnancy Trimesters, Third,Third Pregnancy Trimester,Third Pregnancy Trimesters,Third Trimester,Third Trimester Pregnancies,Third Trimester Pregnancy,Third Trimesters,Trimester, Last,Trimesters, Last,Trimesters, Third
D005260	Female		Females
D005315	Fetal Diseases	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.	Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016216	Ultrasonography, Prenatal	The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.	Fetal Ultrasonography,Prenatal Diagnosis, Ultrasonic,Ultrasonography, Fetal,Diagnosis, Prenatal Ultrasonic,Diagnosis, Ultrasonic Prenatal,Prenatal Ultrasonic Diagnosis,Prenatal Ultrasonography,Ultrasonic Diagnosis, Prenatal,Ultrasonic Prenatal Diagnosis,Diagnoses, Prenatal Ultrasonic,Diagnoses, Ultrasonic Prenatal,Prenatal Diagnoses, Ultrasonic,Prenatal Ultrasonic Diagnoses,Ultrasonic Diagnoses, Prenatal,Ultrasonic Prenatal Diagnoses