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Department of NeonatologyDepartment of Neonatology

Sanz Medical CenterSanz Medical Center

Laniado HospitalLaniado Hospital

Dr. Meir WeisbrodDr. Meir Weisbrod

Dr. Yoram BentalDr. Yoram Bental

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HALLERMANN-STREIFF SYNDROMEHALLERMANN-STREIFF SYNDROME; ; Clinical Synopsis:Clinical Synopsis:

INHERITANCE : Isolated casesINHERITANCE : Isolated cases GROWTH : GROWTH : Height: Proportionate small stature Height: Proportionate small stature Average male height 155-157 Average male height 155-157

cmcm Average female height 152 cmAverage female height 152 cm Weight: Low birth weight Weight: Low birth weight

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HEAD AND NECK : HEAD AND NECK : Head: Head: Brachycephaly Parietal Brachycephaly Parietal

bossingbossing Scaphocephaly Scaphocephaly MicrocephalyMicrocephaly Platybasia Platybasia

Face: Face: Frontal bossingFrontal bossing Malar Malar hypoplasiahypoplasia MicrognathiaMicrognathia

Ears: Ears: Low-set earsLow-set ears

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Eyes: Eyes: Microphthalmia CataractsMicrophthalmia Cataracts Nystagmus StrabismusNystagmus Strabismus

Sparse eyebrowsSparse eyebrows

Sparse eyelashesSparse eyelashes

Blue sclerae, Downward slanting Blue sclerae, Downward slanting palpebral fissures, Iris coloboma, palpebral fissures, Iris coloboma, Choroid coloboma, Optic disk Choroid coloboma, Optic disk coloboma. coloboma.

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Nose: Nose: Thin, small pointed noseThin, small pointed nose

Nasal cartilage hypoplasiaNasal cartilage hypoplasia

Mouth - Mouth - Narrow palateNarrow palate, , High arched High arched palatepalate, Microstomia, , Microstomia, Thin lipsThin lips, Everted , Everted lower lip.lower lip.

Teeth: Teeth: Neonatal teethNeonatal teeth, Partial , Partial anodontia, Malocclusion, Persistence of anodontia, Malocclusion, Persistence of neonatal teeth Supernumerary teeth. neonatal teeth Supernumerary teeth.

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RESPIRATORY :RESPIRATORY :

Nasopharynx: Obstructive Nasopharynx: Obstructive sleep apnea Airways: sleep apnea Airways: TracheomalaciaTracheomalacia

Lung: Pulmonary infectionsLung: Pulmonary infections

Pulmonary hypertension Pulmonary hypertension

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CHEST : CHEST :

External features: Funnel chestExternal features: Funnel chest

Ribs and sternum: Ribs and sternum: Thin ribsThin ribs, , Decreased number of sternal Decreased number of sternal ossification centers.ossification centers.

GENITOURINARY :GENITOURINARY :

Internal genitalia: Internal genitalia: male male CryptorchidismCryptorchidism

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SKELETAL :SKELETAL : Skull: Skull: Thin calvariumThin calvarium, , Delayed Delayed

ossification of suturesossification of sutures, , Wormian bones Wormian bones Shallow sella Shallow sella turcicaturcica, Absence of mandibular , Absence of mandibular condyles.condyles.

Spine: Winging of scapula, Spine: Winging of scapula, Lordosis Scoliosis, Spina bifida. Lordosis Scoliosis, Spina bifida.

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LimbsLimbs

Hyperextensible jointsHyperextensible joints, , Thin Thin gracile long bonesgracile long bones, , Metaphyseal widening Hands: Metaphyseal widening Hands: Thin, gracile metacarpalsThin, gracile metacarpals. .

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SKIN, NAILS, HAIR :SKIN, NAILS, HAIR : Skin: Skin atrophy (over nose Skin: Skin atrophy (over nose

and scalp sutural areas) and scalp sutural areas) Telangiectases Xerosis.Telangiectases Xerosis.

Hair: Hair: Thin, light hairThin, light hair HypotrichosisHypotrichosis (especially scalp, (especially scalp, eyebrows, and eyelashes) eyebrows, and eyelashes)

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NEUROLOGIC :NEUROLOGIC :

Central nervous system:Central nervous system:

Mental retardation (15%) Mental retardation (15%) Hyperactivity, Choreoathetosis, Hyperactivity, Choreoathetosis, Generalized tonic-clonic Generalized tonic-clonic seizures. seizures.

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Microcephalus Microphthalmia, small mouth, very thin fine lips, no philtrum.

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Small, pointed nose

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Sparse eyebrows, sparse eyelashes

Skin atrophy – nose and lower lip

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Bilateral congenital cataract

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Low-set ears, micrognathia

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Low-set ears, micrognathia

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Webbing of the neck

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Bilateral cryptorchidism

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Neonatal Teeth

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Thin fingers

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ד" ד"בס בסThin ribs

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Thin calvarium,shallow sella turcica

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Thin, gracile metacarpals

Hand

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Thin gracile metatarsals

Foot

ד" ד"בס בסPictures from

Smith