Biomaterial Database

Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. 2000

H S Lee, and J W Doh, and C J Kim, and J G Chi

Department of Pathology and Obstetrics, Seoul National University College of Medicine, Korea. HYE@netian.com

Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.

UI	MeSH Term	Description	Entries
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
D001842	Bone and Bones	A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.	Bone Tissue,Bone and Bone,Bone,Bones,Bones and Bone,Bones and Bone Tissue,Bony Apophyses,Bony Apophysis,Condyle,Apophyses, Bony,Apophysis, Bony,Bone Tissues,Condyles,Tissue, Bone,Tissues, Bone
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
D000028	Abortion, Induced	Intentional removal of a fetus from the uterus by any of a number of techniques. (POPLINE, 1978)	Embryotomy,Abortion (Induced),Abortion Failure,Abortion History,Abortion Rate,Abortion Technics,Abortion Techniques,Abortion, Drug-Induced,Abortion, Rivanol,Abortion, Saline-Solution,Abortion, Soap-Solution,Anti-Abortion Groups,Fertility Control, Postconception,Induced Abortion,Previous Abortion,Abortion Failures,Abortion Histories,Abortion Rates,Abortion Technic,Abortion Technique,Abortion, Drug Induced,Abortion, Previous,Abortion, Saline Solution,Abortion, Soap Solution,Abortions (Induced),Abortions, Drug-Induced,Abortions, Induced,Abortions, Previous,Abortions, Rivanol,Abortions, Saline-Solution,Abortions, Soap-Solution,Anti Abortion Groups,Anti-Abortion Group,Drug-Induced Abortion,Drug-Induced Abortions,Embryotomies,Failure, Abortion,Failures, Abortion,Group, Anti-Abortion,Groups, Anti-Abortion,Histories, Abortion,History, Abortion,Induced Abortions,Postconception Fertility Control,Previous Abortions,Rate, Abortion,Rates, Abortion,Rivanol Abortion,Rivanol Abortions,Saline-Solution Abortion,Saline-Solution Abortions,Soap-Solution Abortion,Soap-Solution Abortions,Technic, Abortion,Technics, Abortion,Technique, Abortion,Techniques, Abortion
D000130	Achondroplasia	An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)	Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,SADDAN,SADDAN Dysplasia,Skeleton-Skin-Brain Syndrome,Achondroplasias,Dysplasia, SADDAN,Dysplasias, SADDAN,SADDAN Dysplasias,SADDANs,Skeleton Skin Brain Syndrome,Skeleton-Skin-Brain Syndromes,Syndrome, Skeleton-Skin-Brain,Syndromes, Skeleton-Skin-Brain
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