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8/2/2019 Congenital Renal Disease
http://slidepdf.com/reader/full/congenital-renal-disease 1/68
Congenital Renal and Genital
Abnormalities
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Congenital Renal Abnormalities
• Isolated Renal Agenesis
• Bilateral Renal Agenesis
• Hypoplastic Kidney• Ectopic Ureter
• Bifid Ureter
• Megaureter
• Vesicourinary Reflux• Hydronephrosis
• Cystic Kidney
• Renal Tubular Dysgenesis
• Accessory Renal Artery
• Ectopic (Pelvic) Kidney• Horseshoe Kidney
• Mayer-Rokitansky-Kuster-Hauser syndrome
• Gartner’s Cyst • Epoophoron / Paroopheron
• Dysplastic Kidney
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Renal Involvement in MultipleCongenital Anomaly Syndromes
• Potter’s Syndrome
• RCS: Renal Coloboma Syndrome
• BOR: Brachio-oto-renal Syndrome
• TBS: Townes-Brocks Syndrome
• Nagar Syndrome
• CHARGE Syndrome
• VACTERL Syndrome
• DiGeorge Sequence
• association with preauricular pits and tags?
• association with single umbilical artery?
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Urogenital Development
Intermediate mesoderm
• nephrotomes
– cervical, regress @ 4 wks
• mesonephroi - Wolffian ducts - vas deferens
- urogenital sinus - bladder, urethra
– thoracolumbar, regress @ 10 wks
• metanephroi - ureteric buds & kidney blastema
– sacral, arise @ 4 wks
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Urogenital Development
Metanephros induced by uteric buds
• renal corpuscle induces Bowman’s capsule
• as uteric bud branches, blastema bifurcates
• reciprocal induction of branching• renal calyces form from 2o bud fusion
• uteric buds form collecting tubules
• blastema forms PCT, LoH, DCT
• DCT fuses with CD @ 10 wks
Kidneys ascend from sacral to lumbar
• differential growth of segments
• new vessel growth from more proximal aorta
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• PAX2 expressed in CNS, optic placode, kidney
• PAX2 prevents apoptosis, supporting proliferation
• PAX2 autophagy dependent on HSP73, LGP96 and
inhibited by EGF receptor signalling• PAX2 phosphorylated by MAPK pathway (JNK)
• PAX2 expressed in nephrogenic rests adjacent toWilms tumors (WT1 inhibits Pax2 expression)
• PAX2 enhances transcription of WT1, E-cadherin,GDFa and several BMP and FGF genes
• PAX2 inhibits transcription of vimentin gene
Molecular Genetics
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Molecular Genetics
• RET and GDFa involved in uteric bud growth andbranching, and thus metanephric induction
• GDFa is absent in PAX2null mice
• BMP4 inhibits GDF
• EYA1 expressed in kidney blastema
• PAX8 expressed in early renal tubular epithelium
called S-shaped body
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Hereditary Urogenital Adysplasia
• Isolated renal agenesis 1/2,000
• Bilateral renal agenesis 1/3,000
• Renal aplasia (non-functional tissue capping ureter)
• true agenesis = absent ureter, bladder hemitrigone, andvas deferens
• defects in mesonephric / paramesonephric ducts
• can get 2o regression of hypoplastic / dysplastic kidney
• nuclear medicine scan can rule out ectopic kidney
• autosomal dominant
• 50-90% penetrance, variable expression
• Vancouver family with 5q11.2 - q13.3 aberration
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Renal Agenesis• Absence of kidneys
– Unilateral (compatible with life)
• Affects 1 in every 800-1500 people
• May occasionally present with genitalia anomolies• Trisomy of 18
• Addition or partial trisomy of 13
• Prenatal rubella infection
– Bilateral (incompatible with life)• 40% stillborn
• Of those born alive 95% die within 24 hours of birth
• Potter syndrome and associated oligohydramnios
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Renal hypoplasia
• Incomplete development of kidneys
– Unilateral (compatible with life)
– Bilateral (incompatible with life) if condition is
severe
• Kidneys are small
– Decreased functional parenchyma
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• 10% incidence of asymptomatic renal anomalies foundin parents / sibs of 41 index cases of B renal agenesis
• 8% incidence in sibs of 221 perinatal lethal renal dz
• Parental renal US does not predict recurrance risk
Recommendations:
• prenatal US @ 15-18 weeks PMA• no contact sports for ptns with unilateral renal
agenesis
• increased risk for HTN, ESRD
Hereditary Urogenital Adysplasia
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Congenital Renal Abnormalities
• Hypoplastic Kidney (paucity of uteric bud bifurcation,or renal vascular formation <brachyrrhine mouse>)
• Ectopic Ureter (formation 3 uteric buds)
• Bifid Ureter (premature uteric bud bifurcation)
• Hydronephrosis (failure of programmed cell death inblastema, spontaneously or 2o to obstruction)
• Megaureter• Vesicourinary Reflux (familial, QTL at 1p13)
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Cystic Kidney Diseases
• Failure of collecting duct to fuse w/ metanephros
• Autosomal dominant polycystic kidney disease
• PKD1, mutant polycystin gene, 16p13.3
• PKD2, polycystin interacting protein, 4q13-p23
• PKD3, locus not mapped
• Autosomal recessive polycystic kidney disease
• disease gene maps to 6p, incidence 1/40,000
• mouse model Pax2null
in cpk background• Multicystic dysplastic kidney
• multifocal microcystic tubular dilation (thickennedCD w/ undifferentiated renal blastema
• mouse model Pax2 transgenic
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Congenital cystic kidneys
• Type 1
– Polycystic kidneys found in infants
• Bilateral and results in early death• AKA giant or sponge kidneys
• Large renal pelvis and calyces
• Type 2
– Cysts are variable in size and shape
– Usually unilateral
– Affected kidney non functional
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Congenital cystic kidneys (cont.)
• Type 3 – Affected kidneys contain both normal and abnormal
tissue
– Both kidneys involved – Autosomal dominant gene
• Trisomy of 13-15, 18, 21, 22
• Type 4
– Caused by urethral obstruction – If severe early death
• Type 5 – Manifests during adult life, death by 50.
– Autosomal dominant
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Renal Tubular Dysgenesis
• Hereditary less common than acquired (ACEi)
• Hypoplasia of tubules, absense of PCTs
• Associated with paternal minimal change disease• Normal amniotic fluid volume before 22 weeks
(because of mesonephroi ?)
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• Accessory renal artery (no sacral vessel regression)
• Ectopic (Pelvic) Kidney (no migration of kidney)
• Horseshoe Kidney (fusion of inferior pole of kidneys)
• Gartner’s Cyst (mesonephric duct remnant near
vagina)
• Mayer-Rokitansky-Kuster-Hauser syndrome (defectof metanephric and paramesonephric ducts)
• Epoophoron / Paroopheron (mesonephric ductremnant near oviduct)
Congenital Renal Abnormalities
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Horseshoe (fused) kidney
• Fusion of two kidneys at their lower end
– Tissue that connects kidneys = isthmus
• 1:400
• Trisomy 13-15; 18, 21, Turner’s syndrome,
mosaicism
• In rats horseshoe kidney can be produced
experimentally by creating vitamin A
deficiency
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Potter’s Syndrome
• 1946 Edith Potter - Chicago pathologist
• “flattened ears & bilateral renal agenesis”
• incompatible with life• incidence 1/3,000 live births
• Potter’s facies only 20% Potter’s syndrome
• wide set eyes, squashed nose, receding chin, large lowset ears, deficiency of cartilage
• due to oligohydramnios of any cause
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Eagle-Barrett Syndrome
• More commonly known as Prune Belly
Syndrome
• Characterized by:
– deficiency of abdominal wall musculature
– a dilated, non-obstructed urinary tract
– bilateral cryptorchidism
– talipes equinovarus and hip dislocation
• Incidence is 1/35-50,000
• >95% occur in males
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• Believed to be caused by in-utero urinary
tract obstruction and a specific mesodermal
injury between the 4th and 10th week of
gestation.
• Associated with renal dysplasia or agenesis.
• Often presents with a large-capacity, poorly
contractile bladder.
• Heart, pulmonary, GI and orthopedic
anomalies occur in a large percentage of PBS
patients.
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Management:
• Neonatal Period
– Optimize urinary tract drainage
– Monitor and treat renal insufficiency
– Antibiotic prophylaxis if reflux is present
• Children
– Surgical repair of reflux
– Orchiopexy
– Reconstruction of the abdominal wall
– Renal transplant
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Prune Belly Syndrome -
Prognosis• Prognosis varies from stillbirth to minimal
abdominal laxity.
• Long-term prognosis depends on renalfunction and pulmonary status.
• Psychological issues stemming from
abdominal wall laxity and infertility.
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Renal Coloboma Syndrome
• Renal failure, coloboma, high frequency hearing loss
• Extreme variability of phenotype: VU reflux only tooligomeganephronia (bilateral renal hypoplasia)
• Pax2 Gene Mutation on 10q22.1-q24.3
• Two alternatively spliced transcripts known
• Multiple mutations / polymorphisms identified
• mouse model made by transgene insertion into Pax2• 2nd mouse model Pax2(1Neu) frameshift mutant
• Zebrafish model “no isthmus”
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Brachio-oto-renal Syndrome
Brachial cysts / fistulas 60%
Ear malformations (cup, lop, microtia) 30%
Preauricular pits 70%Hearing loss 75%
Renal anomalies 15%
• autosomal dominant, seen in 1/40,000 live births• EYA1 gene mutation
• EYA1 expressed in condensing blastema prior toepithelialization
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Townes-Brocks Syndrome
Ear defects (satyr, lop, cup, pits, tags) 70%
Hearing loss 50%
Hand malformation 50%Imperforate anus / rectourinary fistula 50%
Renal anomalies 25%
• autosomal dominant transcription factor defect • SALL1 gene mutation
• SALL1 expressed in excretory organs, ear, limbs
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Nagar Syndrome
Craniofacial anomalies (mandibular hypoplasia)
Preaxial limb defects (noradii, hypoplastic hallices)
Hearing loss 95%Renal anomalies 10%
• unknown mode of inheritance
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CHARGE Syndrome
Coloboma of iris / retina 80%Heart defects 75%Atresia of choanae 50%
Retarded growth 70%Developmental delay 100%Genital hypoplasia 70%Ear Defects / hearing loss 90%
Renal abnormalities 15%Cleft lip / palate 20%Tracheo-esophageal fistula 20%
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VACTERL
Vertebral anomaliesAnal atresiaCardiac abnormalitiesTracheoesophageal fistulaEsophageal dysmotilityRenal anomaliesLimb defects
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DiGeorge Sequence
thymic aplasia / hypoplasia and immunodeficiency
developmental delay
cleft lip / palate
colobomas
parathyroid hypoplasia
cardiac malformations
renal agenesis
• Autosomal dominant, recessive, or X-linked
• Microdeletion in 22q11 most common
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Preauricular Pits and Tags
• Incidence 5/1000 live births
• 2 studies: 4-9% associated w/ renal disease
• hydronephrosis, or undiagnosed MCA
• Mainz Congenital Birth Defect Monitoring System• association with cup ears, preauricular pits
• no association with ear tags
• Embryology: Ear & Kidney Arise Separate Times
• UCLA recommendations for Renal US:
• FHx deafness, renal or auricular disease
• maternal gestational diabetes
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Development of the reproductive
system• Makes its appearance during 5th & 6th week
– Indifferent stage-sex cannot be determined
• Gonads (testes & ovaries) develop from
– Coelomic epithelium
– Inner mesenchyme tissue
– Primordial germ cells
• Thickening of ventromedial surface of urogenital
ridge forming genital ridge
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Genital ridge
• Covered by coelomic epithelium
– Primary sex cords
• Grow into underlying mesenchyme
• Inner mass is composed of mesenchyme
• Outer layer called cortex
• Inner layer called medulla
– Males- medulla differentiates, cortex regresses
– Females-cortex develops, medulla regresses
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Primordial Germ Cells (PGC)
• Differentiate in the neck of the yolk sac
– Early in the 4th week
• Migrate to genital ridge
– Amoeboid movement
– By end of 6th week the PGC become
incorporated into the primary sex cords – migration of primordial germ cells
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Development of testes
• Primary sex cords of testes containing theprimordial germ cells = testes cords
– Well defined cords within the medulla
– Contain two types of cells
• Epithelial cells Sertoli cells• Primordial germ cells spermatoblasts
– development of testes
• Testes cords remain solid until puberty
– Canalize to form seminiferous tubules (ST), tubulirecti, rete testis
• ST seperated from each other by mesenchyme that givesrise to interstitial cells (Cells of Leydig)
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Development of the Ovaries
• Primary sex cords are not well defined
– Extend into the medulla but later dissappear
• PGC migrate near the cortex (surface epithelium
– Forms cortical cords
– At about 16th week cortical cords break up into
isolated clusters called primordial follicles
– development of ovary
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Primordial Follicles
• Follicle contains
– Ooblast (oogonium)
• Derived from the primordial germ cell
• Undergoes mitosis during fetal life – Results in development of primary oocyte
– A number of follicular cells
• Derived from the cortical cords
– Each primary oocyte surrounded by follicular cells
= primary follicle
• follicular development
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Development of Genital Ducts• Indifferent stage
– Both male and female genital ducts present
• Male develop from mesonephric/wolffian ducts
• Female develop from paramesonephric/mullerian duct
– Undifferentiated gonad
• Males:Mesonephric ducts form epididymis,
ductus deferens, ejaculatory duct
– Cranial mesonephric tubules efferent ducts• Open into epididymis
– Process begins about the 3rd month
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Development of Genital Ducts
• Females: Paramesonephric duct/Mullerian duct
develops on each side of the body
– Longitudinal invagination of coelomic epithelium
on the lateral surface of mesonephros
– Ducts open into coelom
– Runs along side of mesonephric duct
– Fuse at caudal end• Y shaped uterovaginal complex uterus & vagina
– uterovaginal complex
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Fetal testes
• Produce androgens
– Stimulate development of mesonephric ducts
– Suppress formation of paramesonephric ducts
• If testes fail to develop or removed
– Paramesonephric ducts will develop
• Removal of fetal ovaries
– Has no effect on fetal sexual development
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Development of external genitalia
• Indifferent stage – Genital tubercle
• Develops at upper end of cloacal membrane
• Elongates to form the Phallus
– Labioscrotal swellings appear – Urogenital folds appear
– Cloacal membrane divided into two
• Development of urorectal septum
– Upper urogenital membrane
– Lower anal membrane
» These membranes rupture around week 7 formingurogenital and anal openings
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Development of external genitalia
• Male genitalia
– Phallus elongates to form the penis
• Enlongation pulls the urogenital folds together
• When folds start to fuse they enclose the urethra – Urethral opening moves progressively towards end of penis
– Labioscrotal swellings fuse forming scrotum
• Female genitalia – Phallus becomes clitoris (relatively small)
– Urogenital folds do not fuse labia minora
– Labioscrotal fuse only at ends
labia majora
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Accessory sex glands
• Male
– Highly developed
• Seminal vesicles• Prostate
• Bulbourethral glands
• Female – Minimal
• Major vestibular glands (homologous to
bulbouretharal glands in male)
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Congenital Malformations• Ovarian hypoplasia
• Pure gonadal dysgenesis
• Testicular feminization syndrome
• Hermaphroditism
– true
– Female pseudohermaphroditism
– Male pseudohermaphroditism• Hypospadias
• Epispadia
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Ovarian hypoplasia
• Small overies
• Poor breast development
• Small uterus
• Found in Turner’s syndrome
– Incomplete or partial X chromasome
• Can be unilateral or bilateral
– Unilateral fertile
– Bilateral infertile
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Pure Gonadal Dysgenesis
• Normal karyotypes (46, XX or 46, XY)
• Primordial germ cells do not migrate from
the yolk sac – No development of the ovaries or testes
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Jacob’s syndrome
• XYY
• No abnormal appearance/behavior• fertile
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Jacob’s Syndrome
1 in 1,800 births
47 chromosomes
XYY only
47XYY
#23 Trisomy
Nondisjunction
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Jacob’s Syndrome
Normal physically
Normal mentally
Increase in testosteronePerhaps more aggressive
Normal lifespan
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Testicular Feminization Syndrome
• Occurs at rate of 1:50,000
• Appears to be a normal female despite the
presence of testes in either abdomen oringuinal region
– Testes produce normal levels of testosterone
• Tissues unresponsive to androgens
• External genitalia are normal
• Shallow blind ending vagina
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Hermaphroditism
• True hermphrodite
– Both ovaries and testicular tissue present
• Masculine form
• Feminine form
• Intermediate form (more common) – 46, XX/ 46, XY or 46, XX/ 47, XXY
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Hermaphroditism• Female pseudohermaphroditism (46, XX)
– AKA congenital adrenogenital syndrome
• Masculinization due to high level of androgens fromadrenal cortex
• Male pseudohermaphroditism
– Testes and ambiguous female genitalia
• Many types, most common is of unknown etiology
• Often considered females at a young age because penisis absent
– Raised as girls until puberty when male secondary sexcharacteristics appear via endocrine activities of testes
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Klinefelter’s Syndrome
• XXY, male
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Klinefelter’s Syndrome
1 in 1,100 births
47 chromosomes
XXY only
47, XXY
#23 Trisomy
Nondisjunction
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Klinefelter’s Syndrome
Scarce beard
Longer fingers and arms
Sterile
Delicate skinLow mental ability
Normal lifespan
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Down Syndrome • 47, XY, +21
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1 in 1,250 births
47 chromosomes
XY or XX
#21 Trisomy
Nondisjunction
Down Syndrome
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Down Syndrome
Short, broad hands
Stubby fingers
Rough skin
Impotency in malesMentally retarded
Small round face
Protruding tongue
Short lifespan
T S d
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Turners Syndrome
• 45, X
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Wolf Hirshhorn Syndrome
• 4p- • Very rare. Affected children are small, with
microcephaly and abnormal facies. There are
cardiac, renal, and genital abnormalities. Mostare stillborn or die in infancy.
A i idi Wil T
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Aniridia-Wilms Tumor
Syndrome
1 in 50,000,000 births
46 chromosomes
XY or XX
#11 Deletion of upper arm
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Aniridia-Wilms Tumor Syndrome
Mentally retarded
Growth retarded
Blindness
Tumors on kidneysShort lifespan
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Four-Ring Syndrome
Cleft palate
Club feet
Testes don’t descend
Short lifespan
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Triple X Syndrome
1 in 2,500 births
47 chromosomes
XXX only
#23 Trisomy
Nondisjunction
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References: 1) Development of the Urogenital System. In Human Embryology
1st Ed. W.J. Larsen, Ed. Churchill Livingstone, New York, 1993.
2) Renal Agenesis. In Nelson Textbook of Pediatrics 16Ed.,Behrman, Ed., W.B. Saunders Company, 2000.
3) R.Y. Wang et al . Syndromic Ear Anomalies & RenalUltrasounds. Pedi. 108:e32, Aug 2001.
4) OMIM 191830, 267430.