Bifid Tongue, A Rare Congenital Malformation, Is A Prenatal Clue For Secondary Cleft Palate

Bifid Tongue, a Rare Congenital Malformation,
Is a Prenatal Clue for Secondary Cleft Palate

Prenatal diagnosis of a secondary cleft palate without a cleft of the primary palate and lip is
very rare and is a challenge for the sonographer. However, in utero detection of this
malformation is highly important for prenatal counseling. The organogenesis of the palate
and tongue takes place within the same embryonal period; therefore, the association between
tongue malformations and a cleft palate is clear. We report the prenatal sonographic and
postnatal findings of a case with micrognathia, a secondary cleft palate, and a bifid tongue.
By introducing this case, we wishto alert the physician to look for palatal defects when
tongue abnormalities are found.
A 32-year-old pregnant woman with multiple sclerosis, gravida 2, para 1, was referred at 25
weeks’ gestation for evaluation of sonographically detected fetal anomalies. Her first
pregnancy resulted in a healthy female infant who is currently 4 years old. The obstetric
history of the nonconsanguineous couple was unremarkable. Prenatal scans at the 21st and
25th weeks of this pregnancy revealed micrognathia. A targeted sonographic examination
with emphasis on an active fetal swallowing mechanism and nasopharyngeal structures
revealed, in addition to previously identified micrognathia, a cleft palate, an abnormal
pharynx, glossoptosis, and a bifid tongue (Figure 1, A and B). After genetic counseling, the
pregnancy was terminated by request of the couple. Unfortunately, the couple declined a full
autopsy but gave consent for apostnatal examination. The fetal karyotype, including
fluorescence in situ hybridization for 22q11, was normal. Postnatal examination confirmed
the sonographic abnormalities (Figure 1, C and D). With the improvements in obstetric
sonographic technology, we have the ability to detect even minor fetal anomalies. In
pregnancies at risk for genetic disorders, this information can aid us in reaching the correct
diagnosis and subsequently improve prenatal counseling given to couples at risk. The first
indication of tongue development is the appearance of the median tongue bud at the end of
the fourth embryonic week. Soon after, the lateral lingual swellings, also called the distal
tongue buds, develop on each side of the median tongue bud. These swellings are the result of
mesenchymal proliferation of the first pair of the pharyngeal arch.
The distal buds increase in size, merge in the midline, and form the anterior two-thirds of the
tongue, also termed the oral part of the tongue. The fusion is indicated by a middle groove,
termed the median sulcus of the tongue.1 Prenatal detection of tongue abnormalities,
including macroglossia and microglossia, has already been described. In 1997, Achiron et al2
established a nomogram for the fetal tongue circumference. However, because the proximal
lingual edge has no well-defined border, an accurate measurement of the length of the tongue
is complex. Other congenital anomalies of the tongue are very rare and include fissuring of
the tongue, hypertrophy of lingual papillae, congenital lingual cysts and fistulas derived from
the thyroglossal duct, ankyloglossia (tie tongue), tumors, and a bifid tongue.1 A bifid or cleft
tongue (glossoschissis) is a tongue with a groove or split running lengthwise along the tip of
the tongue. It is the result of incomplete fusion of the distal tongue buds. A bifid tongue may
be an isolated deformity and has also been reported to be associated with maternal diabetes.
Two infants with a bifid tongue born to diabetic mothers were reported.3,4 Those infants
were also noted to have other malformations, including a cleft palate and polydactyly.
Combined deformities of the palate and tongue are suspected to be manifestations of various
types of the heterogeneous group of oral-facialdigital syndromes.5 Vandenhaute et al6
described a case of an infant with the Pierre-Robin sequence, epignathus teratoma, and a bifid
tongue who died at the age of 2 months. Epignathus teratomas of the oropharyngeal region
may be associated with other malformations in 6% of cases; among those malformations are a
bifid tongue and even a bifid nose.6
A bifid tongue was reported in other distinct syndromes, such as short rib syndrome, short rib
polydactyly syndrome, median cleft syndrome, and the Klippel-Feil anomaly.7–9 Our case
does not completely fulfill the diagnostic criteria of any well-defined syndrome. The absence
of characteristic digital features makes the diagnosis of an oral-facial-digital syndrome
unlikely, although minor digital bone anomalies may be missed on a propositus radiogram.
Similarly, it was difficult to establish the diagnosis of a median cleft syndrome due to a lack
of characteristic stigmata such as hypertelorism and a broad nasal root. The Klippel-Feil
anomaly was excluded by the absence of fused cervical vertebrae. Nevertheless, the
combination of abnormalitiesfound in our case allows us to classify it as the Pierre-Robin
sequence. This condition is a congenital malformation characterized by varying features,
dominated by micrognathia, a cleft palate, posterior retraction of the tongue, and neonatal
breathing difficulties, with a heterogeneous and mostly unknown etiology. The importance of
the association between a bifid tongue and cleft palate is clear, but unfortunately, in contrast
with a primary cleft palate, the prenatal detection rate for a secondary cleft palate without a
cleft of the primary palate and lip is extremely low (0%–1.4%).10 In our case, only the
identification of a bifid tongue encouraged us to actively look for abnormalities in the
craniomaxillofacial region, which finally enabled us to identify a secondary cleft palate. We
therefore suggest examining the palate carefully once a bifid tongue is observed. Moreover,
the unique appearance of the pharynx during fetal swallowing should alert the physician to
look for nasopharyngeal abnormalities. Finally, an isolated bifid tongue has cosmetic
implications and can be surgically repaired. However, when associated with other
malformations, a specific genetic syndrome should be suspected.

Bifid Tongue, A Rare Congenital Malformation, Is A Prenatal Clue For Secondary Cleft Palate

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Bifid Tongue, a Rare Congenital Malformation,

Is a Prenatal Clue for Secondary Cleft Palate

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