Biomaterial Database

Report on two cases of Freeman-Sheldon syndrome ("whistling face). 1980

R Savini, and G Gualdrini

The Freeman-Sheldon syndrome is a rare hereditary disorder that was described by these authors in 1938 under the name of "cranio-carpotarsal dystrophia". It is characterised by a combination of congenital malformations of which the principal are: deformities of the face and skull, flexion and ulnar deviation of the fingers and talipes. The appearance of the face is the most striking feature, the small dimension of the oral fissure giving rise to the term "whistling face" proposed by Burian (1963). Spinal curvature is often present, and can show marked progression, as in one of our cases. The congenital hip dislocation present in both our cases has not been observed in previously described cases. As far as we know, the two cases described here are the first in Italy to be added to the other twenty-eight already reported in literature.

UI	MeSH Term	Description	Entries
D008297	Male		Males
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
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003025	Clubfoot	A deformed foot in which the foot is plantarflexed, inverted, and adducted.	Equinovarus,Talipes Equinovarus,Clubfeet,Clubfeet, Congenital,Clubfoot, Congenital,Congenital Talipes Equinovarus,Pie Torcido,Congenital Clubfeet,Congenital Clubfoot,Pie Torcidos,Talipes Equinovarus, Congenital
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005260	Female		Females
D006228	Hand Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.	Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital
D006618	Hip Dislocation, Congenital	Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males.	Hip Dysplasia, Congenital,Congenital Dysplasia Of The Hip,Congenital Hip Dislocation,Congenital Hip Displacement,Congenital Hip Dysplasia,Dislocation Of Hip, Congenital,Dislocation, Congenital Hip,Displacement, Congenital Hip,Dysplasia, Congenital Hip,Hip Displacement, Congenital,Hip Dysplasia, Congenital, Nonsyndromic,Hip, Dislocation Of, Congenital,Congenital Hip Dislocations,Congenital Hip Displacements,Congenital Hip Dysplasias,Dislocations, Congenital Hip,Displacements, Congenital Hip,Dysplasias, Congenital Hip,Hip Dislocations, Congenital,Hip Displacements, Congenital,Hip Dysplasias, Congenital