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בס"ד

בס"ד. Department of Neonatology Sanz Medical Center Laniado Hospital Dr. Meir Weisbrod Dr. Yoram Bental. בס"ד. HALLERMANN-STREIFF SYNDROME ; Clinical Synopsis: INHERITANCE : Isolated cases GROWTH : Height: Proportionate small stature Average male height 155-157 cm

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בס"ד

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  1. בס"ד Department of Neonatology Sanz Medical Center Laniado Hospital Dr. Meir Weisbrod Dr. Yoram Bental

  2. בס"ד HALLERMANN-STREIFF SYNDROME; Clinical Synopsis: • INHERITANCE : Isolated cases • GROWTH : Height: Proportionate small stature Average male height 155-157 cm Average female height 152 cm Weight: Low birth weight

  3. בס"ד • HEAD AND NECK : Head: Brachycephaly Parietal bossing Scaphocephaly Microcephaly Platybasia Face: Frontal bossingMalar hypoplasiaMicrognathia Ears: Low-set ears

  4. בס"ד Eyes: Microphthalmia Cataracts Nystagmus Strabismus Sparse eyebrows Sparse eyelashes Blue sclerae, Downward slanting palpebral fissures, Iris coloboma, Choroid coloboma, Optic disk coloboma.

  5. בס"ד Nose: Thin, small pointed nose Nasal cartilage hypoplasia Mouth - Narrow palate, High arched palate, Microstomia, Thin lips, Everted lower lip. Teeth: Neonatal teeth, Partial anodontia, Malocclusion, Persistence of neonatal teeth Supernumerary teeth.

  6. בס"ד • RESPIRATORY : Nasopharynx: Obstructive sleep apnea Airways: Tracheomalacia Lung: Pulmonary infections Pulmonary hypertension

  7. בס"ד • CHEST : External features: Funnel chest Ribs and sternum: Thin ribs, Decreased number of sternal ossification centers. GENITOURINARY : Internal genitalia: male Cryptorchidism

  8. בס"ד • SKELETAL : Skull: Thin calvarium, Delayed ossification of sutures, Wormian bones Shallow sella turcica, Absence of mandibular condyles. Spine: Winging of scapula, Lordosis Scoliosis, Spina bifida.

  9. בס"ד • Limbs Hyperextensible joints, Thin gracile long bones, Metaphyseal widening Hands: Thin, gracile metacarpals.

  10. בס"ד • SKIN, NAILS, HAIR : Skin: Skin atrophy (over nose and scalp sutural areas) Telangiectases Xerosis. Hair: Thin, light hairHypotrichosis (especially scalp, eyebrows, and eyelashes)

  11. בס"ד • NEUROLOGIC : Central nervous system: Mental retardation (15%) Hyperactivity, Choreoathetosis, Generalized tonic-clonic seizures.

  12. Microcephalus Microphthalmia, small mouth, very thin fine lips, no philtrum. בס"ד

  13. בס"ד Small, pointed nose

  14. Sparse eyebrows, sparse eyelashes בס"ד Skin atrophy – nose and lower lip

  15. בס"ד Bilateral congenital cataract

  16. בס"ד Low-set ears, micrognathia

  17. Low-set ears, micrognathia בס"ד

  18. Webbing of the neck בס"ד

  19. Bilateral cryptorchidism בס"ד

  20. בס"ד

  21. בס"ד Neonatal Teeth

  22. Thin fingers בס"ד

  23. בס"ד

  24. בס"ד

  25. Thin ribs בס"ד

  26. בס"ד Thin calvarium,shallow sella turcica

  27. Thin, gracile metacarpals בס"ד Hand

  28. בס"ד Foot Thin gracile metatarsals

  29. Pictures from Smith בס"ד

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