Aarskog–Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.
AarskogD. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr. 1970;77(5):856–861. doi:10.1016/s0022-3476(70)80247-5
2.
ScottCI. Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth Defects Orig Art Ser. 1971;7(6):240–246.
DepeyreASchlundMGryseleynRFerriJ. Dental and maxillofacial signs in Aarskog syndrome: a review of 3 siblings and the literature. J Oral Maxillofac Surg. 2018;76(10):2202–2208. doi: 10.1016/j.joms.2018.03.027.
5.
HassingerDDMulvihillJJChandlerJB. Aarskog’s syndrome with Hirschsprung’s disease, midgut malrotation, and dental anomalies. J Med Genet. 1980;17(3):235–238. doi: 10.1136/jmg.17.3.235
6.
PorteousMEGoudieDR. Aarskog syndrome. J Med Genet. 1991;28(1):44–47. doi: 10.1136/jmg.28.1.44
KanameTYanagiKOkamotoNNaritomiK. Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. Am J Med Genet A. 2006;140(12):1331–1332. doi: 10.1002/ajmg.a.31253
9.
VölterCMartínezRHagenRKressW. Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. Eur J Pediatr. 2014;173(10):1373–1376. doi: 10.1007/s00431-014-2317-3
10.
ChapmanKLBaylisATrost-CardamoneJ, et al.The Americleft Speech Project: a training and reliability study. Cleft Palate Craniofac J. 2016;53(1):93–108
11.
KollaraLBaylisALKirschnerRE, et al.Velopharyngeal structural and muscle variations in children with 22q11.2 deletion syndrome: an unsedated MRI study. Cleft Palate Craniofac J. 2019;56(9):1139–1148. doi: 10.1177/1055665619851660
12.
PerryJLKollaraLSuttonBPKuehnDPFangX. Growth effects on velopharyngeal anatomy from childhood to adulthood. J Speech Lang Hear Res. 2019;62(3):682–692. doi: 10.1044/2018_jslhr-s-18-0016
Zanetti DrumondVSousa SalgadoLSousa SalgadoC, et al.The prevalence of clinical features in patients with Aarskog-Scott syndrome and assessment of genotype-phenotype correlation: a systematic review. Genet Res (Camb). 2021;2021:6652957. doi:10.1155/2021/6652957
15.
OrricoAGalliLObregonMGde Castro PerezMFFalcianiMSorrentinoV. Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. Am J Med Genet A. 2007;143A(1):58–63. doi:10.1002/ajmg.a.31562
16.
OrricoAGalliLCavaliereML, et al.Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet. 2004;12(1):16–23. doi: 10.1038/sj.ejhg.5201081
17.
SatohKWadaTTachimuraTSakodaSShibaR. A cephalometric study of the relationship between the level of velopharyngeal closure and the palatal plane in patients with repaired cleft palate and controls without clefts. Br J Oral Maxillofac Surg. 1999;37(6):486–489. doi:10.1054/bjom.1999.0187
18.
MasonKNPerryJLRiskiJEFangX. Age-related changes between the level of velopharyngeal closure and the cervical spine. J Craniofac Surg. 2016;27(2):498–503. doi:10.1097/SCS.0000000000002403
19.
RiskiJERuffGLGeorgiadeGSBarwickWJEdwardsPD. Evaluation of the sphincter pharyngoplasty. Cleft Palate Craniofac J. 1992;29(3):254–261. doi:10.1597/1545-1569_1992_029_0254_eotsp_2.3.co_2
20.
CarlisleMPSykesKJSinghalVK. Outcomes of sphincter pharyngoplasty and palatal lengthening for velopharyngeal insufficiency: a 10-year experience. Arch Otolaryngol Head Neck Surg. 2011;137(8):763–766. doi:10.1001/archoto.2011.114
