Congenital malformations - Edocr

CHAPTER 40 HORSESHOE KIDNEY 263
TABLE 40–1 Syndromes Associated with Horseshoe Kidney
Syndrome Other Common Clinical Features Etiology
Fanconi pancytopenia Short stature, microcephaly, eye anomalies, radial Autosomal recessive
syndrome
ray defects in upper limbs, pancytopenia,
brownish pigmentation of skin, cardiac, GI and
CNS anomalies
Goltz syndrome Poikiloderma with focal dermal hypoplasia, sparse X-Linked dominant
and brittle hair, dystrophic nails, syndactyly
and sporadic
and other anomalies of hand/feet, eye colobomas,
heart defects
Kabuki syndrome Long palpebral fissures with eversion of the lateral Unknown
portion of lower eyelid, ptosis, cleft palate,
brachydactyly, rib anomalies, cardiac defects,
prominent fingertip pads
Pallister-Hall IUGR, hypothalamic harmartoblastoma, ear Autosomal dominant
syndrome
anomalies, laryngeal cleft, lung agenesis,
syndactyly, polydactyly, anal anomalies,
heart defects
Roberts-SC Hypomelia limb reduction defects of both upper Autosomal recessive
phocomelia
and lower limbs midfacial defects such as
cleft lip and palate, microcephaly, severe IUGR,
cryptorchidism, eye anomalies
Trisomy 13 Holoprosencephaly, microphthalmia, cyclopia, Trisomy
(Patau syndrome) microcephaly, cleft lip and palate, heart defects,
IUGR, genital abnormalities
Trisomy 18 IUGR, low-set malformed ears, clenched hand, Trisomy
(Edwards
heart defects, rocker bottom feet, microcephaly,
syndrome)
genital anomalies
Turner syndrome IUGR, lymphedema, broad chest with widely spaced Monosomy X
nipples, small maxilla and mandible, low hairline,
webbed neck, redundant skin, heart defects,
hearing impairment
VACTERL Vertebral, anal, cardiac, tracheal, esophageal, Unknown, more
association renal and limb anomalies, single umbilical artery, frequently seen
spinal dysraphia, genital abnormalities
in infants of
diabetic mothers
GI, gastrointestinal; CNS, central nervous system; IUGR, intrauterine growth retardation.
should receive antibiotic prophylaxis pending a
complete evaluation. Routine urine analysis,
serum chemistries with blood urea nitrogen, and
serum creatinine are necessary to assess and follow
renal function. No other intervention is necessary
in asymptomatic patients in absence of
any complications.
All infants should undergo a complete physical
examination to evaluate for any other associated
malformations particularly cutaneous markers of
occult spinal dysraphism and anorectal atresia/rectal
fistulas. X-ray of the spine and cardiac
echo should be considered. Routine karyotype
is not necessary unless indicated by the presence
of other systemic malformations. Although
horseshoe kidney has been reported in family
members, there is no recommendation for
screening family members at present.