CASE 10964 Published on 09.06.2013

A case of micrognathia associated with bilateral cleft lip and palate: Fetal US and MRI findings


Head & neck imaging

Case Type

Clinical Cases


Saldari Matteo, Bernardo Silvia, Sollazzo Paolo, Vinci Valeria, Sergi Maria Eleonora, Aliberti Camilla, Giancotti Antonella, Manganaro Lucia

Viale Regina Elena, 324
00161 ROME, Italy;

40 years, female

Area of Interest Foetal imaging ; Imaging Technique MR, Ultrasound
Clinical History
Fetal MRI performed at 32 weeks’ gestation in a 40-year-old woman.
Imaging Findings
The patient underwent fetal magnetic resonance imaging (MRI) to confirm ultrasound (US) findings (Fig. 1) of cleft lip and palate. The exam was performed on a 1.5-T system. T2-weighted HASTE and TRUFI, FLAIR, T1-weighted and DWI (slice thickness = 3-4 mm) sequences were obtained in axial (Fig. 2), coronal (Fig. 3) and sagittal (Fig. 4) planes to study the facial skeleton and the central nervous system (CNS). The exam revealed the presence of bilateral cleft lip and palate with interruption of the anterior third of the hard palate (Fig. 2) with an abnormal communication between the oral and the nasal cavity, seen as a hyperintense line of fluid on T2-weighted TRUFI images (Fig. 3). Fetal MRI also disclosed protrusion of the upper lip associated with micrognathia (Fig. 4). No CNS abnormalities were found. We also provide MRI images of normal lip, palate and jaw in a fetus at the same gestational age (Fig. 5).
Cleft lip with and without cleft palate (CLP) occurs in about 1/700 live births [1]. The severity of the cleft is related to its extension, varying from cleft lip alone to complete cleft lip, alveolus and palate [2]. Although developmentally different [3], cleft lip and cleft palate are often associated and can occur as part of genetic syndromes [4]. Cleft of the primary palate results from failure of the medial nasal prominences to fuse and merge with the maxillary prominences. Cleft of the secondary palate results from defective development and fusion of the lateral palatal processes [5]. Ultrasound is a real-time, inexpensive and easily accessible examination [6]. However, it is one of the most operator-dependent imaging techniques and detection of CLP can be difficult because of shadowing from bony structures, oligohydramnios, maternal obesity or unfavourable fetal position [7]. MRI is not allowed before the first trimester and is an expensive examination [8]. Its use could be limited by maternal claustrophobia or by fetal movements, although the development of ultrafast sequences has mostly resolved these problems. However, MRI is characterised by an excellent soft tissue resolution and is a valuable complement to sonography in case of CLP, allowing precise evaluation of the primary and secondary palate [9]. It is able to identify the direct communication between the oral and the nasal cavities and the presence of micrognathia especially with the use of T2-weighted HASTE and TRUFI sequences. It is also the most accurate technique to exclude anomalies (especially involving the CNS) known to be associated with CLP [10]. In addition, US visualisation of the hard palate decreases after 24 weeks of gestation [11] and MRI may be necessary for fetuses in this gestational age. On the other hand, the utility of earlier MRI around 20 weeks of gestation, when ultrasound diagnoses are usually made remains untested. Further studies are also needed to compare US and MRI findings of cleft lip and palate at the same gestational age [8].
Prenatal ultrasound remains the screening method of choice for detection of fetal deformities. However, for all fetuses with US diagnosis of CLP it may be helpful to obtain a follow-up MRI to exclude brain anomalies and to assess the severity of the cleft. In our case, providing an excellent visualisation of the extension of the defect, MRI was a useful tool to plan an adequate postnatal airway support and to give instructions in specific feeding techniques.
Differential Diagnosis List
Bilateral cleft lip and palate associated with micrognathia
Facial tumours
Amniotic band syndrome
Final Diagnosis
Bilateral cleft lip and palate associated with micrognathia
Case information
DOI: 10.1594/EURORAD/CASE.10964
ISSN: 1563-4086