The frequency of palatal anomalies in Saethre-Chotzen syndrome.
OBJECTIVE
Saethre-Chotzen Syndrome (SCS) is an autosomal dominant disorder with widespread phenotypic variability. Cardinal features include coronal synostosis, blepharoptosis, and limb abnormalities. Cleft palate can also occur, but there are few reports on its frequency. This study was undertaken to determine the prevalence of palatal anomalies in this population.


METHODS
We retrospectively reviewed the records of 51 patients with SCS seen at Children's Hospital Boston over the past 30 years. Palatal findings in our patients were compared with those in the literature. To illustrate the phenotypic variability in SCS, we describe an unusual infant who presented for evaluation of cleft palate and blepharoptosis. Her father had only blepharoptosis; this was the clue to the diagnosis, which was confirmed by finding a deletion in the TWIST gene.


RESULTS
In our patients, high-arched palate was noted in 43%, bifid uvula in 10%, and cleft palate in 6%. These figures differed slightly from the combined percentages in published reports: 24% with high-arched palate, 2% with bifid uvula, and 5% with cleft palate.


CONCLUSIONS
Palatal anomalies are relatively common in SCS. This entity should be considered in the differential diagnosis of a child with cleft palate, particularly in the presence of blepharoptosis, nasal deviation, and limb abnormalities in the patient or in family members.
Stoler
Joan M
JM
Division of Genetics, Department of Medicine, Harvard Medical School, Children's Hosptial, Boston, Massachusets, USA. joan.stoler@children.harvard.edu
Rogers
Gary F
GF
Mulliken
John B
JB
D000168:Acrocephalosyndactylia / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D001763:Blepharoptosis / Q000473:pathology; D001900:Boston / Q000453:epidemiology; D002972:Cleft Palate / Q000453:epidemiology* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009687:Nuclear Proteins / Q000235:genetics; D010159:Palate / Q000002:abnormalities*; D010160:Palate, Soft / Q000002:abnormalities; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D051879:Twist-Related Protein 1 / Q000235:genetics; D014609:Uvula / Q000002:abnormalities
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1