Hallermann Streiff Syndrome-The Oral Manifestations in a Child

Hallermann-Streiff-François (HSF) syndrome is marked by a characteristic facies with hypoplastic mandible and beaked nose, proportionate short stature, hypotrichosis, microphthalmia with congenital cataract, hypodontia, hypotrichosis, skin atrophy of the face and hypoplasia of the clavicles and ribs. About 15% of cases display intellectual deficit. Neonatal teeth may be present. Upper airway obstruction may result from small nares and glossoptosis (tongue falling backwards) secondary to micrognathia, and these may lead to cor pulmonale .

Tracheomalacia is a complication that can lead to chronic respiratory insufficiency, resulting in biventricular cardiac failure and early death. It is a rare clinical entity of unknown etiology that affects growth, cranial development, hair growth, and dental development . It is probably due to a developmental disorder in the 5th-6th gestational week that results in an asymmetric second branchial arch defect. Most cases are sporadic but some have mutations in the GJA1 gene (6q21-q23.2). Both autosomal dominant and autosomal recessive inheritance have been postulated. Reproductive fitness may be low but rare affected individuals have had affected offspring. Males and females are equally affected. The facies are sometimes described as ‘bird-like’ with a beaked nose. HSS is characterized by seven essential signs, as described by Francois: Dyscephaly (scaphocephaly or brachycephaly with frontal bossing) and typical facies (micrognathia, condylar aplasia, and thin pointed nose); dental anomalies; proportionate nanism; hypotrichosis; atrophy of the skin localized to the head and nose; bilateral microphthalmia; and congenital cataracts. It is known that the dental abnormalities are present in 50%- 80% of the cases; these abnormalities include malocclusion; open bite; severe caries; enamel hypoplasia; supernumerary and neonatal teeth; hypodontia; premature eruption of primary teeth; agenesis of permanent teeth; and maxillary hypoplasia, with poor development of the paranasal sinuses. Our main objective here is to report a case of HSS in 9 years old female child with physical and oral features consistent with the syndrome as well as detection of mutism in this child which has not been reported earlier in cases of HSS.