Biomaterial Database

The tricho-rhino-phalangeal syndrome. 1977

D J McCloud, and L M Solomon

A family with the tricho-rhino-phalangeal syndrome was studied. One child, the proband, manifested the complete triad of the syndrome with fine, sparse, slow-growing hair, pear-shaped nose, and abnormal fingers. Cone-shaped epiphyses were observed radiographically in the child, in both parents, and in two of three remaining children.

UI	MeSH Term	Description	Entries
D009667	Nose Deformities, Acquired	Abnormalities of the nose acquired after birth from injury or disease.	Acquired Nasal Deformities,Nasal Deformities, Acquired,Acquired Nasal Deformity,Acquired Nose Deformities,Acquired Nose Deformity,Nasal Deformity, Acquired,Nose Deformity, Acquired
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
D004838	Epiphyses	The head of a long bone that is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united.	Epiphysis
D005260	Female		Females
D006197	Hair	A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.	Fetal Hair,Hair, Fetal,Lanugo,Fetal Hairs,Hairs,Hairs, Fetal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes