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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

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  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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