American Journal of Medical Genetics 41:515-516 (1991)
Respiratory Obstruction and Cor Pulmonale in the Hallermann-Streiff Syndrome Meinhard Robinow Department of Pediatrics, Wright State University School of Medlcine and Children’s Medical Center, Dayton, Ohio The risk of respiratory death in the Hallermann-Streiff syndrome is not insignificant, particularly in the neonatal period and in infancy. Upper airway obstruction may result from small nares and glossoptosis secondary to micrognathia, which sometimes lead to cor pulmonale. I report on a patient with such problems.
KEY WORDS Hallermann-Streiff syndrome, cor pulmonale INTRODUCTION The Hallermann-Streiff (H-S) syndrome is a welldelineated malformation syndrome of somewhat variable severity. The cause is unknown. Failure to thrive in infancy is not uncommon and has sometimes been attributed to poor suck [Suzuki et al., 1970; Steele and Bass, 19701. Upper airway obstruction, occasionally requiring tracheostomy, has been reported in a few cases [van Balen, 19611. I am presenting an infant boy observed 20 years ago. He had severe growth failure, upper airway obstruction, and recurrent aspiration pneumonia, and eventually developed severe cor pulmonale. CLINICAL REPORT The patient was the 4th child of healthy, young, nonconsanguineous parents; the family history was unremarkable. The mother had noted that fetal movements were much weaker than in her other pregnancies. The infant was born 3 weeks before term with a weight of 2.44 kg. The diagnosis of the H-S syndrome was made at birth. The infant was difficult to feed. He remained in the nursery for 3 weeks without gaining weight. When seen at age 4 months in the Birth Defects Clinic, he was 51 cm long, weighed 2.9 kg, and had a head circumference of 37.2 cm with bulging forehead, microphthalmia, cataracts, small mandible, “pinched” nose, open anterior and posterior fontanelles, and hypo-
Received for publication August 27, 1990; revision received February 6,1991. Address reprint requests to Meinhard Robinow, M.D., Children’s Medical Center, Dayton, OH 45404.
0 1991 Wiley-Liss, Inc.
trichosis of eyebrows and eyelashes with patches of alopecia (Fig. 1).His genitalia were small. The nares were very narrow and the nasal airway was obstructed. Radiographs of the chest showed unusually slender bones (Fig. 2). A lateral view of the face (Fig. 3) showed a markedly increased neurosomatic ratio, thin calvaria, and a very hypoplastic, anteriorly displaced mandible with an almost completely effaced mandibular angle. The tongue was very small. A fluoroscopic study documented slow swallowing and an unusually narrow esophagus. A pulmonary infiltrate was present in this and all subsequent examinations. Respiratory difficulties had been present since birth. The patient had never been able to breathe through his nose. In spite of vigorous antibiotic therapy, aspiration pneumonias became almost continuous. His heart gradually enlarged. The cardiothoracic ratio increased from 0.50 at 4months to 0.65 at 11 months, during which time his hemoglobin concentration rose to 16.6 g per 100 ml. Chest radiographs showed an enlarged heart which compressed the carina upward and posteriorly. A tracheostomy was considered but was rejected because of his poor condition (probably an unwise decision).A feeding gastrostomy was performed a t 6 months but did not lead t o any weight gain or clearing of the pulmonary infiltrates. At the age of 11 months he was admitted with H. influenzae meningitis and died a few hours later. His weight was only 2.7 kg, which was barely above his birth weight. Although the meningitis was the cause of his death, he probably would have died soon of cor pulmonale.
DISCUSSION In view of the very hypoplastic mandible, a constant finding in the H-S syndrome, one might expect upper airway obstruction and cor pulmonale to be the rule. Actually, there have been only a few such reports [Suzuki et al., 1970; Steele and Bass, 1970; van Balen, 19611. Perhaps a reasonable explanation is that the tongue in the H-S syndrome may also be small or hypoplastic [Hoefnagel and Benirschke, 1965; Franqois, 19821,thus providing some protection from the dangers of micrognathia. In any event, potential life threatening respiratory problems can occur in the H-S syndrome. The clinician needs t o be aware of such complications and must evaluate the source of obstruction.
516
Robinow
Fig. 1. Patient at 4 months. Bulging forehead, narrow nose, small mouth and chin.
Fig. 2. Radiograph, age 4 months. Gracile bones.
ACKNOWLEDGMENT The patient was referred in 1970 by his pediatrician, Dr. John Bloom, Dayton, OH. REFERENCES Franqois J (1982): Franqois dyscephalic syndrome. BD:OAS 18(6): 595-619. Hoefnagel D, Benirschke K (1965): Dyscephalia mandibulooculofacialis (Hallermann-Streiff syndrome) Arch Dis Child 4052-61. McKusick V (1990):“Mendelian Inheritance in Man. Catalogs of Autosoma1 Dominant, Autosomal Recessive and X-linked Phenotypes,” 9th ed. Baltimore: Johns Hopkins University Press, pp 1229-1230. Steele RW, Bass J W (1970): Hallermann-Streiff syndrome. Clinical and prognostic considerations. Am J Dis Child 120:462-465. Suzuki Y, Fujii T, Fukuyama Y (1970):Hallermann-Streiff syndrome. Dev Med Child Neurol 12:496-506. van Balen ATM (1961):Dyscephaly with microphthalmos, cataract and hypoplasia of the mandible. Ophthalmologica 14153-63.
Fig. 3. Age 4 months. Lateral skull. Poorly ossified calvaria, high neurosomatic ratio, hypoplastic straight mandible.
Respiratory Obstruction and Cor Pulmonale in the Hallermann-Streiff Syndrome Meinhard Robinow Department of Pediatrics, Wright State University School of Medlcine and Children’s Medical Center, Dayton, Ohio The risk of respiratory death in the Hallermann-Streiff syndrome is not insignificant, particularly in the neonatal period and in infancy. Upper airway obstruction may result from small nares and glossoptosis secondary to micrognathia, which sometimes lead to cor pulmonale. I report on a patient with such problems.
KEY WORDS Hallermann-Streiff syndrome, cor pulmonale INTRODUCTION The Hallermann-Streiff (H-S) syndrome is a welldelineated malformation syndrome of somewhat variable severity. The cause is unknown. Failure to thrive in infancy is not uncommon and has sometimes been attributed to poor suck [Suzuki et al., 1970; Steele and Bass, 19701. Upper airway obstruction, occasionally requiring tracheostomy, has been reported in a few cases [van Balen, 19611. I am presenting an infant boy observed 20 years ago. He had severe growth failure, upper airway obstruction, and recurrent aspiration pneumonia, and eventually developed severe cor pulmonale. CLINICAL REPORT The patient was the 4th child of healthy, young, nonconsanguineous parents; the family history was unremarkable. The mother had noted that fetal movements were much weaker than in her other pregnancies. The infant was born 3 weeks before term with a weight of 2.44 kg. The diagnosis of the H-S syndrome was made at birth. The infant was difficult to feed. He remained in the nursery for 3 weeks without gaining weight. When seen at age 4 months in the Birth Defects Clinic, he was 51 cm long, weighed 2.9 kg, and had a head circumference of 37.2 cm with bulging forehead, microphthalmia, cataracts, small mandible, “pinched” nose, open anterior and posterior fontanelles, and hypo-
Received for publication August 27, 1990; revision received February 6,1991. Address reprint requests to Meinhard Robinow, M.D., Children’s Medical Center, Dayton, OH 45404.
0 1991 Wiley-Liss, Inc.
trichosis of eyebrows and eyelashes with patches of alopecia (Fig. 1).His genitalia were small. The nares were very narrow and the nasal airway was obstructed. Radiographs of the chest showed unusually slender bones (Fig. 2). A lateral view of the face (Fig. 3) showed a markedly increased neurosomatic ratio, thin calvaria, and a very hypoplastic, anteriorly displaced mandible with an almost completely effaced mandibular angle. The tongue was very small. A fluoroscopic study documented slow swallowing and an unusually narrow esophagus. A pulmonary infiltrate was present in this and all subsequent examinations. Respiratory difficulties had been present since birth. The patient had never been able to breathe through his nose. In spite of vigorous antibiotic therapy, aspiration pneumonias became almost continuous. His heart gradually enlarged. The cardiothoracic ratio increased from 0.50 at 4months to 0.65 at 11 months, during which time his hemoglobin concentration rose to 16.6 g per 100 ml. Chest radiographs showed an enlarged heart which compressed the carina upward and posteriorly. A tracheostomy was considered but was rejected because of his poor condition (probably an unwise decision).A feeding gastrostomy was performed a t 6 months but did not lead t o any weight gain or clearing of the pulmonary infiltrates. At the age of 11 months he was admitted with H. influenzae meningitis and died a few hours later. His weight was only 2.7 kg, which was barely above his birth weight. Although the meningitis was the cause of his death, he probably would have died soon of cor pulmonale.
DISCUSSION In view of the very hypoplastic mandible, a constant finding in the H-S syndrome, one might expect upper airway obstruction and cor pulmonale to be the rule. Actually, there have been only a few such reports [Suzuki et al., 1970; Steele and Bass, 1970; van Balen, 19611. Perhaps a reasonable explanation is that the tongue in the H-S syndrome may also be small or hypoplastic [Hoefnagel and Benirschke, 1965; Franqois, 19821,thus providing some protection from the dangers of micrognathia. In any event, potential life threatening respiratory problems can occur in the H-S syndrome. The clinician needs t o be aware of such complications and must evaluate the source of obstruction.
516
Robinow
Fig. 1. Patient at 4 months. Bulging forehead, narrow nose, small mouth and chin.
Fig. 2. Radiograph, age 4 months. Gracile bones.
ACKNOWLEDGMENT The patient was referred in 1970 by his pediatrician, Dr. John Bloom, Dayton, OH. REFERENCES Franqois J (1982): Franqois dyscephalic syndrome. BD:OAS 18(6): 595-619. Hoefnagel D, Benirschke K (1965): Dyscephalia mandibulooculofacialis (Hallermann-Streiff syndrome) Arch Dis Child 4052-61. McKusick V (1990):“Mendelian Inheritance in Man. Catalogs of Autosoma1 Dominant, Autosomal Recessive and X-linked Phenotypes,” 9th ed. Baltimore: Johns Hopkins University Press, pp 1229-1230. Steele RW, Bass J W (1970): Hallermann-Streiff syndrome. Clinical and prognostic considerations. Am J Dis Child 120:462-465. Suzuki Y, Fujii T, Fukuyama Y (1970):Hallermann-Streiff syndrome. Dev Med Child Neurol 12:496-506. van Balen ATM (1961):Dyscephaly with microphthalmos, cataract and hypoplasia of the mandible. Ophthalmologica 14153-63.
Fig. 3. Age 4 months. Lateral skull. Poorly ossified calvaria, high neurosomatic ratio, hypoplastic straight mandible.
