A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect

Teratology

Volumn 16, Issue 3, 1977, Pages 345-350

  Piepkorn, Michael ^a   Karp, Lawrence E ^a   Hickok, Durlin ^a   Wiegenstein, Louise ^a   Hall, Judith G ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOPSY; CARDIOVASCULAR MALFORMATION; CARTILAGE CELL; CLEFT PALATE; CRANIOFACIAL SYNOSTOSIS; DIAGNOSIS; DWARFISM; ELECTRON MICROSCOPY; MAJOR CLINICAL STUDY; OSSIFICATION; POLYDACTYLY; SHORT RIB; SYNDACTYLY; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; CALCINOSIS; CARDIOVASCULAR ABNORMALITIES; CARTILAGE; CENTRAL NERVOUS SYSTEM; CLEFT PALATE; CRANIOSYNOSTOSES; DWARFISM; FEMALE; FINGERS; HUMANS; INFANT, NEWBORN; RIBS; TOES; UROGENITAL ABNORMALITIES;

EID: 0017689094     PISSN: 00403709     EISSN: 10969926     Source Type: Journal    
DOI: 10.1002/tera.1420160315     Document Type: Article

References (10)

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4. An autoradiographic and electron microscopic study of collagen synthesis in differentiating cartilage
5. The chondrodystrophies
6. Radiographic diagnosis of neonatal short‐limbed dwarfism
7. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies
8. Short rib‐polydactyly (SRP) syndromes, types Majewski and Saldino‐Noonan
9. Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias