Frontonasal Dysplasia

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    Foreword:

    The mere absence of one

    symptom or clinical featurecannot exclude a Disease

    entity since signs andsymptoms vary in every

    individual

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    individual

    Southwestern UniversityMHAM College of Medicine

    CLINICO-PATHOLOGIC CASECONFERENCE

    by: ACLB

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    General Data:

    Baby Boy T., Male neonate,Roman Catholic, Filipino,

    from Looc, Salvacion, Lapu-lapu City. Delivered viaCesarean section secondaryto Encephalocele

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    Prenatal history:

    Mother is 36 years old, G2P1001 Blood type O Rh positive Works in a Coffee shop Prenatal care started at 4 months

    AOG at VSMMC Ultrasound (4 months AOG)- noted a

    mass at the frontal area of the head. Continued PNC with a private

    Obstetrician

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    Prenatal history:

    Repeat Ultrasound at 7 months AOG-Enlarging mass was noted at thefrontal area of the head and cleft lip.

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    Natal history:

    Patient was delivered via Cesareansection secondary to Encephalocele

    Has good cry and good respiratoryeffort

    APGAR score: 8, 9 Ballard score: 39 weeks Birth weight: 2,600 grams AGA

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    Physical examination:

    Anthropometricmeasurements

    Interpretation byPercentile:

    Head circumference:

    31.5 cm

    10p

    Chest circumference:31 cmAbdominal girth: 29 cm

    Body length: 48 cm 25p

    Birth weight: 2.6 kg 10p

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    Physical examination:

    Vital signs:

    HR 150 bpm 147 +/- 30.5

    RR 50 cpm 59 +/- 18.2

    Temperature:37.5

    36.5- 37.5(core)

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    Physical examination:

    CVS Distinct Heart sound, nomurmur

    Abdomen Globular, Umbilical cord has 2Arteries & 1 vein, soft, noorganomegaly

    Genitalia Grossly male, Testes down,

    good rugae

    Extremities No Gross deformity, CRT < 2seconds

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    The Salient Features

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    Salient Features:

    ANTENATAL HISTORY:- Mother is 36 years old- Ultrasound at 4 months AOG showed a

    mass at the frontal area of the head- Repeat ultrasound at 7 months AOG-

    showed an enlarging mass at thefrontal area of the head

    - Cleft lip

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    Salient Features

    Encephalocele- Occipital encephalocele is the most

    common- 70 % of cases- Increased risk of developing

    Hydrocephalus in any of the followingetiologies:Aqueduct stenosis,Chiari malformation,Dandy-Walker syndrome

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    Salient feature

    Meckel-Gruber syndrome is a rareautosomal recessive condition that ischaracterized by an occipital

    encephalocele. Anterior encephalocele is associated

    with Trisomy 18 and Roberts

    syndrome Encephaloceles can be an isolated

    finding or part of multiple anomalies like

    chromosomal abnormalities

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    Anterior encephalocele

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    Cranium bifidum

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    Salient feature

    Frontal encephalocele alwayscontain brain tissue and involvebridge of nose (60%) and nasalcavity (30%)

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    Conditions with AnteriorEncephalocele

    MULTIFACTORIAL INHERITANCESingle Mutant gene: -Roberts syndrome-Median-cleft face syndromeChromosomal abnormalities:

    -Trisomy 13 and 18

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    Salient feature:

    CLEFT LIP and CLEFT PALATE-Are distinct entities closely related

    embryologically, functionally, andgenetically

    -The incidence of cleft lip with or withoutcleft palate is 1/750 white births

    -the incidence of cleft palate alone is1/2,500 white births

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    Salient Feature: Cleft lip/ Cleft palate

    -Possible causes include maternal drugexposure, a syndrome-malformationcomplex, or genetic factors

    -It can appear sporadically or inherited ina dominant fashion- van der Woude syndrome

    - Can be part of a Multiple anomalysyndrome or can be an Isolated case

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    Salient features:

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    Salient feature:Isolatedanomaly

    Cleft lip, cleft palate or bothAtypical facial cleft

    Sequence Robin sequence;Holoprosyncephaly sequence;

    Frontonasal dysplasiaChromosomalabnormalities

    Trisomy 13, 18, 21; othertrisomies

    Monogenicsyndromes Autosomal dominant;autosomal recessive disorders;X-linked disorders

    Association Multiple congenital anomaliesof unknown etiologies

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    Salient features:

    Widely spaced eyesHYPERTELORISM

    - is an increased distance between theorbits of the face

    - Can be an isolated finding, and in manycases may be normal for that individual.However, it may also be seen as part ofa group of defects

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    Salient Feature

    Conditions with Hypertelorism: Chromosomal (sex chromosome abnormalitiesinvolving extra X chromosomes, unusual trisomyssuch as trisomy 14 and 9, chromosome deletions,

    etc.) Skull dysplasias craniosynostosis disorders

    (Aperts Syndrome, Crouzons Syndrome,Carpenters Syndrome, Pfeiffer Syndrome, andSaethre-Chotzen Syndrome)

    Median facial plane defects (anterior cephaloceleand median facial cleft syndrome)

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    Salient Feature:

    Mid-face tumors or growths (teratomas,gliomas, hemangiomas, mucoceles, etc.)

    Genetic Syndromes (such as Waardenburgsyndrome, Noonan Syndrome, RiegerSyndrome, Opitz Syndrome, etc.)

    Defects of the Brain (hydrocephalus,agenesis of the corpus callosum,

    lissencephaly, megalencephaly, etc.)

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    Salient feature

    Right Palpebral fissure smaller than theLeft:

    =Microphthalmia -usually associated with malformations

    =In unilateral microphthalmia, the normal eye can have apparent abnormality

    =can be due to teratogens or chromosomal abnormalities or inheritance

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    Salient feature:

    4 Nostrils: Polyrrhinia (Double nose) or

    supernumenary nostrils ( accessorynostrils

    Usually associated with Genetic defect,chromosomal abnormalities,

    pseudohypertelorism, or it can be anisolated case

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    Salient feature

    Developmentalanomalies of the noseencompass a diverse

    group of conditions.

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    Salient feature

    LOW SET EARS

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    Salient Feature

    Rare conditions that can cause low-setand malformed ears include:

    Beckwith-Wiedemann syndrome Potter syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Treacher Collins syndrome Trisomy 13

    Trisomy 18

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    Salient Feature

    SMALL PHARYNGEAL AREA-May occur as a result of Cleft Palate-Associated with nasal defects

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    Salient Feature

    DISTINCT HEART SOUND, NOMURMUR

    -Does not signify Congenital Heart defectis absent in the Neonate

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    Salient Feature

    NO GROSS DEFORMITY ON THEEXTREMITIES

    GENITALIA GROSSLY MALE,TESTES DOWN, GOOD RUGAE

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    Salient Feature:

    APGAR: 8,9 BALLARD SCORE: 39 WEEKS BIRTH WEIGHT: 2,600 GRAMS APPROPRIATE FOR GESTATIONAL

    AGE HEAD CIRCUMFERENCE: 31.5

    cm(10p) BIRTHLENGTH : 48 cm (25p)

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    INQUIRIES

    Are there any physical deformities onthe head of his Parents? Is itnormocephalic, Large or small or

    appropriate Any Facial feature distinguishable from

    the Parents?

    Any relative with congenital defect? In the Antenatal history, Did the mother

    incurred any illnesses?

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    Inquiries

    Was the mother exposed to Radiationin the first and second trimester?

    Any medications the mother is takingduring pregnancy?

    Did she use medications to abort thefetus?

    NATAL History: Was the Cesarean elective or

    emergency?

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    Inquiries

    Is the fontanel open? Specially theAnterior fontanel?

    Is the Head Deformed or asymmetricalor Normocephalic?

    ANCILLARY PROCEDURES Was Babygram done? CT scan? MRI? Cranial ultrasonography?

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    Echocardiogram? Chest Radiography? Was Karyotyping done? Or requested? What are the results of the above

    mentioned procedures?

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