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: n INHERITANCE : Isolated cases n GROWTH : Height: Proportionate small stature Height: Proportionate small stature Average male height 155-157 cm Average male height 155-157 cm Average female height 152 cm Average female height 152 cm Weight: Low birth weight Weight: Low birth weight

3. בס"ד n HEAD AND NECK : Head: Brachycephaly Parietal bossing Scaphocephaly Microcephaly Platybasia Head: Brachycephaly Parietal bossing Scaphocephaly Microcephaly Platybasia Face: Frontal bossing Malar hypoplasia Micrognathia Face: Frontal bossing Malar hypoplasia Micrognathia Ears: Low-set ears Ears: Low-set ears

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

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

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

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

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

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

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

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

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

13. בס"ד Small, pointed nose

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

15. בס"ד Bilateral congenital cataract

16. בס"ד Low-set ears, micrognathia

17. בס"ד Low-set ears, micrognathia

18. בס"ד Webbing of the neck

19. בס"ד Bilateral cryptorchidism

20. בס"ד

21. Neonatal Teeth

22. בס"ד Thin fingers

23. בס"ד

25. Thin ribs

26. בס"ד Thin calvarium, shallow sella turcica

27. בס"ד Thin, gracile metacarpals Hand

28. בס"ד Thin gracile metatarsals Foot

29. בס"ד Pictures from Smith