Hallerman Streiff Syndrome

Hallermann-Streiff syndrome (HSS) is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; hypotrichosis; eye abnormalities; dental defects; degenerative skin changes, particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, brachycephaly with dyscephaly; a small, hypoplastic mandible; a narrow, highly arched palate; and a thin, pinched, tapering nose. Many affected individuals also have congenital cataracts or corneal stromal opacities; microphthalmia; and/or other ocular abnormalities (glaucoma, retinal detachments).

Dental defects may include natal or neonatal teeth,delayed tooth eruption,hypodontia or partial adontia,abnormal tooth development resulting in short roots and early loss of teeth,and/or improper alignment of teeth.In almost all cases,HSS has appeared to occur randomly for unknown reasons(sporadically).We present the clinical case of the boy who came first to our clinic in 2014 when he was 4 month old and was diagnosed with HSS,and the changes of the eye during the observation period until 2022

. A 4-month-old baby boy was brought to our clinic for examination in 2014 because of his small eyes. When the anamnesis was collected, it was determined that his parents were cousins. The baby was the second child of the family. The patient had bilateral microcornea, internal curvature. The head was brachycephalic with frontal and parietal protrusions. There was sparse, black hair confined to the posterior two-thirds of the skull. The skin was dry and scaly. A bird-like face was noted, including micrognathia and significant symmetrical restriction of movement at the temporo-mandibular joints (Figure 1). The mouth was small with thin lips and a short upper lip. The palate was highly arched and the tongue was of normal size. In the A-scan examination, the size of the eyeball was found to be smaller than normal (OD-14.5mm, OS-15.0mm). Later, during the regular examinations, high-grade hypermetropia was determined and glasses correction was prescribed.During dynamic observation, retardation of motor and mental development was determined in the patient. During the last ophthalmological examination in 2022, the following signs were revealed: hand movements in front of the eyes in the right eye, and 0.1 in the left eye, 0.2 with correction. Although the intraocular pressure was high with a palpator, the child was anxious to perform an instrumental examination, and his parents refused the examination under anesthesia. 

During the initial ophthalmological examination of the patient, microcornea, esotropia, atrophy of the optic nerve, pupillary membrane, and secondary glaucoma were observed in both eyes during the subsequent observation period. Taking into account the severity of the disease, the patient should remain under constant observation of ophthalmologist, dentist and pediatrician.