[Cranio-carpo-tarsal dysplasia syndrome (Freeman-Sheldon syndrome, whistling face syndrome)]. 1987

D Träger

A case of the rare Freeman-Sheldon Syndrome combined with a high luxation of the left hip is reported. The importance of differential diagnosis to arthrogryposis multiplex congenita is explained.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
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
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005147 Facial Bones The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113) Bone, Facial,Bones, Facial,Facial Bone
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
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001176 Arthrogryposis Persistent flexure or contracture of a joint. Amyoplasia Congenita,Arthromyodysplasia, Congenital,Guerin-Stern Syndrome,Myodystrophia Fetalis Deformans,Arthrogryposis Multiplex Congenita,Arthrogryposis Multiplex Congenita (AMC),Congenital Arthromyodysplasia,Congenital Multiple Arthrogryposis,Fibrous Ankylosis of Multiple Joints,Guérin-Stern Syndrome,Otto Syndrome,Rocher-Sheldon Syndrome,Rossi Syndrome,Arthrogryposes,Arthrogryposes, Congenital Multiple,Arthrogryposis Multiplex Congenitas,Arthrogryposis Multiplex Congenitas (AMC),Arthrogryposis, Congenital Multiple,Arthromyodysplasias, Congenital,Congenita, Arthrogryposis Multiplex,Congenita, Arthrogryposis Multiplex (AMC),Congenital Arthromyodysplasias,Congenital Multiple Arthrogryposes,Congenitas, Arthrogryposis Multiplex,Congenitas, Arthrogryposis Multiplex (AMC),Guerin Stern Syndrome,Guérin Stern Syndrome,Multiple Arthrogryposes, Congenital,Multiple Arthrogryposis, Congenital,Multiplex Congenita, Arthrogryposis,Multiplex Congenita, Arthrogryposis (AMC),Multiplex Congenitas, Arthrogryposis,Multiplex Congenitas, Arthrogryposis (AMC),Rocher Sheldon Syndrome,Syndrome, Guerin-Stern,Syndrome, Guérin-Stern,Syndrome, Otto,Syndrome, Rocher-Sheldon,Syndrome, Rossi
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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