Biomaterial Database

[The cranio-carpo-tarsal dysplasia syndrome in a 6-year-old girl (whistling-face syndrome)]. 1979

J Zizka, and J Lichý, and P Balícek

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
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is 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
D005124	Eye Abnormalities	Congenital absence of or defects in structures of the eye; may also be hereditary.	Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D005149	Facial Expression	Observable changes of expression in the face in response to emotional stimuli.	Face Expression,Expression, Face,Expression, Facial,Face Expressions,Facial Expressions
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
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes