Purpose or Case Report: Hallermann-Streiff syndrome (HSS) is a very rare congenital disorder associated with characteristic head and face abnormalities include bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and many ophthalmic disorders. Many patients die during infancy because of life-threatening complications, such as respiratory and cardiac problems.

Methods & Materials: Case 1. Male baby (gestational age 36⁺⁶ weeks, birth weight 2,100 g) was transferred to NICU due to intrauterine growth restriction (IUGR) and abnormal looking face. Family history and maternal history were non-specific. Micro- and brachycephaly with left parietal cephalhematoma, 4 cm sized large anterior fontanel with wide separation of sutures, sparse hair, prominent forehead, microophthalmia with cataract, beak like nose tip, blue colored skin around the nose, low set ear, retro-, and micrognathia, three natal teeth, small mouth, and chubby cheek, small testis and both simian hands with pointed finger were shown.

Case 2. Female baby (geatational age 32⁺⁶ weeks, birth weight 1,750 g) was admitted due to respiratory distress and dysmorphic feature compatible with HSS.

Results: Case 1. Antenatal ultrasonography at 36 weeks of gestation, short and thin long bones, prominent forehead, and small nose with chubby cheek were noted. Postnatal radiologic studies showed thin tubular bones, small and flatted vertebral bodies, and pathologic fracture of left proximal radius. Skull X-ray and cranial CT showed widely opened fontanelle with sutures, flattened parietal bone, mid-facial hypoplasia and left parietal cephalhematoma without other intracranial abnormalities. Chromosomal microarray was non-specific. Follow up 9 months of age, he showed failure to thrive and delayed motor development.

Case 2. Antenatal ultrasonography at 29 weeks of gestation, short long bone and IUGR were noted. Postnatal radiologic studies showed thin clavicle, ribs, vertebrae and tubular bone (hands and feet), and pathologic fractures of both proximal radius. On day 43 of life, head and neck CT showed widely opended fontanelle, thin parietal bone and maxillary hypoplasia, scanty subcutaneous fat tissue. Chromosomal microarray was non-specific. The patient was died on 49 days of life due to cardiorespiratory failure.


Conclusions: HSS can be diagnosed by characteristic clinical feature with antenatal ultrasonography and postnatal radiologic findings.