Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Abstract

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

“…Consistent with similar studies, additional malformations, including cleft palate, ptosis, squint, hypertelorism, diaphragmatic hernia, cerebral, cardiac, genital and skeletal abnormalities were also observed in our study (Aquino et al, 2015;Dellavia et al, 2011;Paradowska-Stolarz, 2014;Sukarova-Angelovska et al, 2014). A branchial fistula was found in one patient (pt 2), a finding that, to our knowledge was not reported before in WHS.…”

Wolf-Hirschhorn Syndrome (WHS), A Case Report and Review of Literature Submit Manuscript

“…The most common facial characteristics are the "Greek warrior helmet" like facies, such as a broad, flat nasal bridge and a high forehead. Midline defects in the brain, heart, palate and genitalia are also present [8,9]. There is a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth and mental retardation, delayed psychomotor development, difficulty in ambulation, often with ataxic gait, muscle hypotonia, and congenital heart defects.…”

The role of dental phenotypes in the diagnosis of rare diseases: Multiprofessional experience

“…6 We have also studied the orodental features in patients affected with Williams-Beuren syndrome, 7 and Wolf-Hirschhorn syndrome. 8 Highlighting the role of the dentist in the multidisciplinary team, the HPO system 2 lists in the category "oral cavity-teeth" 19 phenotypic changes associated with well-established genetic syndromes. Among them are: (1) Abnormal dentition (HPO #000164)-1049 syndromes; (2) Abnormalities in the shape of the dental crown (HPO #0011091)-114 syndromes; (3) Taurodontia (HPO #0000679)-22 syndromes; (4) Macrodontia (HPO #0001572)-30 syndromes and ( 5) Microdontia (HPO #000691)-167 syndromes.…”