THE MANY FACES OF ORAL-FACIAL-DIGITAL SYNDROME
Sukarova-Angelovska E, Angelkova N, Palcevska-Kocevska S, Kocova M
*Corresponding Author: Assistant Profesor Elena Sukarova-Angelovska, Pediatric Clinic, Faculty of
Medicine, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel.: +389-70-358582; Fax: +389-2-
243301; E-mail: ESukarova@doctor.com
page: 37
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CLINICAL MATERIAL
Patient 1. An 18-month-old Albanian boy was
the fi rstborn of unrelated, healthy young parents with
an unremarkable family history. The pregnancy was
uneventful and the delivery was full term and normal,
birth weight 3600 grams. Psychomotor development
was poor with a generalized hypotonia and attenuated
primitive refl exes. Constant eye movement was noticed
early in infancy. Their second child was also a
boy and was healthy at the age of 4 months.
On examination, the patient was 81 cm long
and weighted 10 kg. He had a notch at the upper lip,
highly arched palate, multiple frenulae, small teeth,
multiple nodules on the tongue and an infralingual
hamartoma. His facial appearance was characterized
by frontal bossing, telecanthus, hypertelorism, deepset
eyes, and mild micrognathia. He had permanent
rotatory nystagmus and ceaseless eyelid movement.
Both hands showed minor postaxial polydactyly,
with no involvement of skeletal structures. X-Ray
examination of the hands showed slight widening
of the terminal phalanges of both thumbs and dysplastic,
broad and short intermediate phalanges of
all fi ngers. The nails were short and broad. X-Ray
examination of the feet showed varus deformity, bifi
d terminal phalanges of the hallux and hypoplastic
phalanges of the toes. The length of the limbs was
proportional to the body size (Figure 1).
No malformation was detected in the cardiovascular
and urinary systems. The boy showed severe
delay in motor and mental development. At
18 months he could not sit or stand on his own and
had generalized hypotonia with outbursts of unmotivated
stereotypic movement. A computed tomography
(CT) scan of the brain was not performed.
Fundoscopy and karyotype were both normal.
Patient 2. A 4-year old girl was the sixth child
of unrelated parents of Muslim origin. There is no
history of anomalies in the family. She was born
after a normal pregnancy and delivery, with birth
weight 3100 g and body length 49 cm. Motor delay
was noticed when she was 4 months old. At examination
she showed motor developmental delay,
poor coordination, speech delay (was only able to
pronounce a few words). The fi rst four girls have
normal intelligence and were without any malformation.
The fi fth child was a boy and had moderate
mental retardation with seizures as a consequence
of a perinatal trauma, but no apparent malformation.
The patient had hypertelorism, narrow palpebral
fi ssures, high arched palate, multiple frenulae,
broad nasal root, and low-set posteriorly rotated ears
with protruded lobules. Her neck was short and she
had mesoaxial hexodactyly on both hands, the extra
digit originating from the fourth fi nger. X-ray examination
showed Y shaped third metacarpal on the right
hand, the extra digit being hypoplastic. On the left
hand she had only fi ve metacarpal bones, while the
hypoplastic phalanges of the extra fi nger originated
from the root of the fourth fi nger. There were preaxial
polydactyly of both halluces. The fi rst metatarsal
bones were broad bilaterally (Figure 2). A CT scan
revealed mild hydrocephaly, vermis hypoplasia and
widening of the fourth chamber. Ultrasonographic
evaluation of the kidneys and heart was normal.
Karyotype was also normal.
Patient 3. A 3-month-old girl of Albanian ethnicity
was the second child of healthy, unrelated
parents (mother was 38 and father 39 years old,
respectively), and she was referred to hospital for
intermittent tachypnoea. The older, 14-year-old
sister, was severely mentally retarded. The mother
had four miscarriages before the birth of the patient
who, after an uneventful pregnancy, was delivered
at term by cesarean section because of her breech
position, birth weight 3300 g and length 50 cm.
Postnatal period was normal. On examination postaxial
polysyndactyly of the left hand and duplicated
fi rst toes bilaterally were noted. She had mild facial
dysmorphism including hypertelorism, telecanthus,
long palpebral fi ssures, and a beaked nose (Figure 3).
The tongue was lobulated and the ears were low-set.
The eyes showed intermittent episodes of “sinking”
without permanent nystagmus. Umbilical hernia 2 ´
1 cm and diastasis of abdominal muscles were present.
An X-ray revealed duplication of phalanges of
the extra fi nger originating from the root of the fi fth
metacarpal bone. There was duplication of proximal
and distal phalanges on the left toe, and duplication
of the distal phalange of the right toe. Both fi rst
metatarsal bones were broadened. Ultrasonography
of the brain, heart and kidneys gave normal results.
Karyotype was also normal.
The sister had no features of OFD syndrome
and the reason for her developmental delay was unsolved.
The mother was healthy and ultrasonography
of her kidneys was normal.
Patient 4. The newborn with phenotypically
ambiguous genitalia, was referred to the hospital
because of respiratory distress syndrome and the
presence of multiple anomalies. The family history
was unremarkable. The parents were young and not
related, of Gipsy origin, and had a healthy girl previously.
The second pregnancy was complicated by
olygohydramnios and caudal presentation of the fetus,
and was ended by cesarean section at the 34th
gestational week because of placental abruption,
birth weight was 1750 g and length 43 cm, Apgar
score was 4/5/7 at 1/5/10 minutes, respectively.
After the primary resuscitation, the baby was referred
to our clinic for further evaluation.
The following dysmorphic features were found:
wide forehead, proptosis, telecanthus, antimongoloid
slanted eyes; broad and short nose with bulbous
tip, anteverted nares and hypoplastic nasal wings.
The philtrum was long and smooth with notch of the
upper lip. The tongue was lobed, with hamartoma
on the surface and the median cleft along the whole
length. There was a pseudocleft of the hard palate
with widening of the alveolar ridges. The ears were
large, low-set and poorly shaped with preauricular
tags on the right side. The neck was short with loose
skin. Mesomelic shortening of all limbs was present,
i.e., the forearm was shorter than the upper arm
by 2 cm, and lower leg shorter than the upper leg
by 2.5 cm. There was mesoaxial hexadactyly of both
feet with syndactyly of the third, fourth and fi fth toes
on the right and of the second and third toes on the
left. There was postaxial polydactyly of both hands.
The nails on the hands and feet were hypoplastic. The
genitalia showed ambiguity, a bifi d scrotum and clitoriform
penis (stage 2 on the Prader scale of virilization); testes were not palpable (Figure 4). The karyotype
was 46, XY. The TORCH screen was normal.
The X-rays showed normal length of the ribs,
mesomelic shortening of the tibiae and fi bulae,
polydactyly of hands and feet including metacarpal/
tarsal bones and phalanges. Ultrasonography
revealed partial atrioventricular canal, and a hypoplastic
left kidney.
Two weeks after birth, the child died of cardiorespiratory
insuffi ciency following an apnoeic episode.
Autopsy revealed bilaterally lobulated lungs, partial
hypoplasia of the intrahepatic and extrahepatic biliary
ducts. The testes were histologically normal, and
were located at the upper part of the inguinal channel.
The structure of the brain was normal.
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