Biomaterial Database

[Freeman-sheldon's syndrome (cranio-carpo-tarsal dysplasia) (author's transl)]. 1976

H Liaño, and A Gimeno

A case with typical features of Freeman-Sheldon's syndrome is reported. The proband, a five years old girl had not any other affected members in her family, and showed every other associated malformations previously described: soft tissue swelling of supraorbital area, deep set eyes, epicantus, convergent strabismus, small nose, long philtrum area, H-Defect of chin, craneal alterations, kyphoscoliosis, finger contractures, thickening of the skin over the dorsum of the fingers, talipes equinovarus, etc. A cylindrical morphology of the three last metacarpals of both hands is remarkable.

UI	MeSH Term	Description	Entries
D001763	Blepharoptosis	Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.	Ptosis, Eyelid,Blepharoptoses,Eyelid Ptoses,Eyelid Ptosis,Ptoses, Eyelid
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003394	Craniofacial Dysostosis	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.	Crouzon's Disease,Dysostosis, Craniofacial,Craniofacial Dysarthrosis,Craniofacial Dysostosis Syndrome,Craniofacial Dysostosis Type 1,Craniofacial Dysostosis, Type I,Crouzon Craniofacial Dysostosis,Crouzon Disease,Crouzon Syndrome,Craniofacial Dysarthroses,Craniofacial Dysostoses,Craniofacial Dysostosis Syndromes,Craniofacial Dysostosis, Crouzon,Crouzons Disease,Dysarthroses, Craniofacial,Dysarthrosis, Craniofacial,Dysostoses, Craniofacial
D005260	Female		Females
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
D013285	Strabismus	Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)	Concomitant Strabismus,Dissociated Horizontal Deviation,Dissociated Vertical Deviation,Heterophoria,Heterotropias,Hypertropia,Non-Concomitant Strabismus,Nonconcomitant Strabismus,Phorias,Squint,Strabismus, Comitant,Strabismus, Noncomitant,Convergent Comitant Strabismus,Mechanical Strabismus,Comitant Strabismus,Comitant Strabismus, Convergent,Deviation, Dissociated Horizontal,Dissociated Horizontal Deviations,Dissociated Vertical Deviations,Heterophorias,Heterotropia,Horizontal Deviation, Dissociated,Hypertropias,Non Concomitant Strabismus,Noncomitant Strabismus,Phoria,Strabismus, Concomitant,Strabismus, Convergent Comitant,Strabismus, Mechanical,Strabismus, Non-Concomitant,Strabismus, Nonconcomitant
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes