45 Freeman-Sheldon Syndrome
FSS, whistling face syndrome, craniocarpotarsal dystrophy
Flat immobile facies, sunken eyes, long philtrum, microstomia, puckered mouth, H- or V-shaped groove on chin, camptodactyly with ulnar deviation of fin- gers, talipes equinovarus
Frequency: Fewer than 100 published cases.
Genetics
Probably genetically heterogeneous, with a more common autosomal dominant (OMIM 193700) form and possibly an autosomal recessive (OMIM 277720) form (parental germ cell mosaicism?); most cases sporadic.
Clinical Features
• Flat, immobile midface
• Sunken eyes, hypertelorism, blepharophimosis, antimongoloid eye slant, ptosis, strabismus
• Small nose, long philtrum, narrow nostrils
• Bulging cheeks
• Microstomia, puckered lips, H- or V-shaped dim- pling on chin
• Ulnar deviation of hands (windmill vane hand), clenched fingers, camptodactyly
• Talipes equinovarus
• Limitation of joint motion (fingers, hips, elbows)
• Muscular atrophy in the forearm and leg
• Respiratory problems
• Vomiting and feeding difficulties in infancy
• Retarded growth
• Normal intelligence or mental retardation Differential Diagnosis
• Schwartz-Jampel disease
• Trismus-pseudocamptodactyly syndrome
• Burton syndrome
• Distal arthrogryposis syndromes
Radiographic Features Skull
• Craniofacial disproportion, with reduced antero- posterior length of basal skull and calvarium, and increased height of face
• Microcephaly (45%)
• Maxillary and mandibular hypoplasia
• Steep anterior cerebral fossa
Limbs
• Ulnar deviation of the hands
• Adducted thumbs
• Contracture of fingers and toes
• Talipes equinovarus (80%)
• More advanced maturation of the carpus with respect to phalanges
• Limitation of motion at elbows (5%), radial head dislocation
• Genu valgum
• Vertical talus
Generalized Bone Defects
• Retarded bone age Spine
• Tall vertebrae with narrow AP diameter
• Flattened vertebrae
• Kyphosis/scoliosis (75%)
• Spina bifida occulta
Freeman-Sheldon Syndrome 712
Fig. 45.1. Patient 1, newborn. Flat immobile facies, small upturned nose, long philtrum, puckered lips, micrognathia, clenched fingers, talipes equinovarus
Chest
• Broad, proximally tapering ribs Pelvis
• Hip contracture (15%), hip dislocation
• Vertical ischia
• Coxa valga
Bibliography
Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D. Diagnos- tic criteria for the whistling face syndrome. Birth Defects Orig Art Ser 1975; 11: 161–8
Dallapiccola B, Giannotti A, Lembo A, Saguì L. Autosomal re- cessive form of whistling face syndrome in sibs. Am J Med Genet 1989; 33: 542–4
Hall JG, Reed SD, Greene G. The distal arthrogryposes: delin- eation of new entities- review and nosologic discussion.
Am J Med Genet 1982; 11: 185–239
Toydemir PB, Toydemir R, Bokesoy I. Whistling face pheno- type without limb abnormalities. Am J Med Genet 1999; 86:
86–7
Wettstein A, Buchinger G, Braun A, von Bazan UB. A family with whistling-face syndrome. Hum Genet 1980; 55: 177–89
Freeman-Sheldon Syndrome 713
F
Fig. 45.2 a, b. Patient 2, age 8 years and 5 months. Note microcephaly, with increased convolutional markings; steeply inclined anterior cranial fossa; and craniofacial disproportion with flat facial bones
a b
Fig. 45.3. Patient 2, age 8 years and 5 months. Severe thora- columbar kyphoscoliosis
Freeman-Sheldon Syndrome 714
Fig. 45.4. aPatient 2, age 8 years and 5 months. Hips are con- tracted. Note aberrant topographical position of pelvis owing to spinal scoliosis and limb-length discrepancy. b Patient 3, age 16 years. Iliac bones are small, vertically elongated; pelvic inlet
is enlarged; ischia are vertically oriented. Femoral heads are not adequately covered by the acetabula, and the femoral necks are in valgus position
a
b
Fig. 45.5 a, b. Patient 2, age 8 years and 5 months; c patient 3, age 16 years. Note ulnar deviation of the hands, adducted thumbs, and 5th finger camptodactyly on left side (a)
a b c
Freeman-Sheldon Syndrome 715
F
a
b Fig. 45.6 a, b. Patient 2, age 8 years and 5 months. Note a severe varus deformity of left foot and b vertical talus with severe equinus deformity of right foot
