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Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome
  1. G F PUGLIESE,
  2. G LATORRE,
  3. F LATORRE
  1. Divisione di Neonatologia e Pediatria
  2. Ospedale Regionale ‘Di Venere’
  3. 70012 Bari-Carbonara, Italy

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    Editor,—Hallermann-Streiff syndrome (HSS) is a disorder of unknown origin rarely diagnosed in neonatal period. The early diagnosis of HSS is important for management because many complications, that are often life threatening, may occur early in this syndrome.1 We report an infant with clinical and radiological findings of HSS, a spontaneous fracture of the left arm, and with chromosome variant 46, XX, 16qh+. She was a girl born at term after a normal pregnancy. Her family history was unremarkable. During pregnancy there was no exposure to known teratogens. Birth weight was 2700 g and length was 44 cm. Physical examination showed frontal prominence and cutaneous atrophy of the forehead and over the nose, which was thin, pointed and curved, micrognathia with relative macroglossia, microphthalmia, and a cataract in the right eye. Arms and legs were short in comparison to the body. Abdomen, thorax, genitals, neurological examamination, cardiac structure and function were normnal. Skeletal radiography showed thin ribs, clavicles, and long bones (ulna and radius). Chromosomes were 46, XX, 16qh+ by R banding and C banding techniques. Because of micrognathia and macroglossia the infant was fed by gavage in the first weeks. No respiratory problems occurred in the first month of life. At the age of 3 months the patient had a spontaneous fracture of the left radius and at 10 months (fig 1) she returned to our department because of a severe pneumonia; examination revealed growth retardation (her weight was 4050 g), hypotonia, squinting, and a cataract in the left eye.

    Figure 1

    Infant at 10 months of age.

    Few chromosome anomalies have been found in previous cases, with only Carones reporting some discrepancy in the size of two members of pair of D group chromosomes,2 and Jalbert et aldescribing a del(Bp).3 In our patient we found a well known polymorphism, 16qh+. The meaning of this chromosome finding in HSS is not clear and does not explain the features of this syndrome. Slender long bones with fractures have been described in a fetus with facial appearance of HSS.4 We think that fractures of long bones should be considered a possible complication in HSS related to the bone abnormalities described in these patients.

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