[Osteodysplasty (Melnick-Needles syndrome) (author's transl)]. 1980

E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta

Authors report a new case of osteodisplasty (Melnick-Needles syndrome) and describe radiological findings that are typical of this entity: bony sclerosis of base structures, abnormal dental alignment, sclerosis and irregularity of clavicles and ribs, described as "band-like" deformity, cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing. Flat bones are broadened, particularly iliac crest and vertebral bones. Facial features described by the majority of authors in this entity are present in our patient in an incomplete form: craniofacial disproportion, micrognatia, depressed temples, exophthalmus (not in our patient) and broadened forehead. The paper is intended to gather clinical data of already reported cases in order to facilitate clinical research in the future from the immunological, genetical and biochemical points of view. Our patient has the same clinical history as the patient studied in the original paper. Dr. Melnick was kind enough to send us clinical data and autopsy findings.

UI MeSH Term Description Entries
D008342 Mandibulofacial Dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

Related Publications

E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
March 1968, La Presse medicale,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
January 1982, Progress in clinical and biological research,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
July 1983, Journal of pediatric orthopedics,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
January 1978, Zeitschrift fur Orthopadie und ihre Grenzgebiete,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
January 1982, Progress in clinical and biological research,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
January 1992, Skeletal radiology,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
April 1971, Archives francaises de pediatrie,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
October 1986, Helvetica paediatrica acta,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
March 2006, The Journal of the Association of Physicians of India,
E de la Cruz Sevilla, and L C Moscardó, and J F Verdú Bellod, and E López Martínez, and F Ruíz de la Cuesta
July 1968, Annals of the rheumatic diseases,
Copied contents to your clipboard!