Two Unusual Facial Clefts in a Preterm Neonate

A late preterm male infant with a dysmorphic nasal examination.Born to a primigravida woman aged 28 years with benign prenatal laboratory tests.Non-consanguineous couple, spontaneous conception.An 18-week anatomy scan shows the absence of a nasal bridge; no other follow-up scan is available.Estimated gestational age: 36 weeks.Spontaneous vaginal delivery; neonate cries immediately after birth.Apgar score: 8 and 9 at 1 and 5 minutes, respectively.Vital signsHeart rate: 140 beats per minuteRespiratory rate: 46 breaths per minuteBlood pressure: 60/42/48 mm HgOxygen saturation: 95% (in room air)Temperature: 98.6°F (36.5°C)Physical examinationBirth weight: 1900 g (3% − 10%), birth length: 45 cm (10% − 50%), head circumference: 33 cm (50% − 90%)Head: normocephalic; normal, open, flat fontanellesFace: right-sided nasal cleft with absent right nares, flat nasal bridge, an exposed nasal septum, and broad nasal root (Fig 1); left nostril appears normal with no evidence of choanal atresia; otherwise, a symmetric face without evidence of proboscis (cylindrical protuberance on the nasofrontal region); normal external eye examinationOral cavity: pink mucosae, intact palate, normal sucking and rooting reflexLungs: clear, equal breath sounds; no respiratory distressCardiovascular: normal S1, S2; regular rate and rhythm; no murmurs or gallopsAbdomen: soft and nontender; normal bowel sounds; no hepatosplenomegalyGenitourinary: normal preterm male genitalia; patent anusSkeletal: spine appears normalSkin: no icterus, birthmarks, or other rashesNeurologic: symmetric Moro, normal strength and toneThe neonate is admitted to the neonatal intensive care unit (NICU) for further evaluation. Gavage feedings are started. Abdominal and cranial ultrasonography and echocardiography are performed and all are normal. A detailed ophthalmologic examination is normal. A CT with three-dimensional (3D) reconstruction of the face is ordered.A stable late preterm infant with right-sided nasal cleft and absent right nares, flat nasal bridge, an exposed nasal septum, and a broad nasal root exhibited the following: Binder syndrome (maxillofacial dysplasia)Congenital heminasal hypoplasiaFraser syndrome (cryptophthalmos - syndactyly syndrome)Tessier craniofacial cleftA CT with 3D reconstruction of the face shows absent right nostril and nasal bone with defects in the cartilage and skin as well as a deviated nasal septum with a narrowed right nasal cavity. The right frontal process of the maxilla is hypoplastic with no evidence of a maxillary cleft. There is an incidental soft cleft palate measuring 0.5 cm by 0.5 cm. The left nostril and columella appear normal (Figs 2 and 3). The left maxillae also appear normal. The neonate is re-examined for a submucous cleft on clinical examination, and this finding is confirmed.The neonate is managed by multidisciplinary teams from neonatology, otorhinolaryngology, plastic surgery, genetics, and social service. The neonate continues without respiratory distress and remains hemodynamically stable. The neonate, aged 7 days, is transitioned from gavage feedings to oral feedings and breastfeeding. In the presence of a submucosal cleft, the mother is taught the appropriate technique of latch and position while breastfeeding. The infant does not have any episodes of apnea or bradycardia during the NICU stay. Following assessment by the genetics team, a whole exome sequence is suggested but genetic testing is deferred by the parents given financial constraints. The infant is discharged at 14 days of age with adequate weight gain. Because he is asymptomatic, reconstructive surgery for nasal cleft and submucosal cleft is planned after he is older than 1 year.Congenital heminasal aplasia or unilateral aplasia is a rare malformation with less than 75 cases reported worldwide.1 This is characterized by the absence of half or part of the external nose with a variable degree of abnormality of the internal anatomy of the nose.2 It occurs due to the failure of the normal development of the nasal placode. This can be an isolated finding, as in the index case, or may be associated with choanal atresia or other developmental abnormalities of the first and second arches, with the majority of cases having an associated proboscis lateralis on the same side as the defect.3A CT scan with 3D reconstruction aids in deciding the surgical plan for infants with heminasal aplasia. The infant’s ability to breathe, their adequacy of airway, and their cosmetic appearance also play roles in determining the timing of the surgery. Early reconstruction such as a nasolabial flap in infancy provides major aesthetic improvement.4 A submucous cleft palate is often an incidental finding in affected infants and is the most subtle type of cleft palate; it occurs due to an incomplete union of the mesoderm across the soft palate.5 A submucosal cleft, if present, is important to diagnose and surgically correct to prevent repeated episodes of otitis media, nasal regurgitation, or speech difficulties.6 Facial clefts, including congenital heminasal aplasia, can occur as an isolated malformation or have systemic association such as cardiac abnormalities (eg, ventricular septal defect, pulmonary stenosis), ophthalmologic findings (eg, ptosis, convergent strabismus, microphthalmia, and absent eyeball), and rarely, renal agenesis.3,7,8 Even though there are reported cases of congenital heminasal aplasia with cleft lip and cleft palate in older children, there are no reported cases of congenital heminasal aplasia with a submucosal cleft in a neonate.9The other potential diagnoses considered in this case are ruled out clinically. Infants with Binder syndrome have flat facies and underdevelopment of maxillary sinuses whereas infants with Fraser syndrome have syndactyly and laryngeal and genitourinary abnormalities.10,11 Cleft sparing the cupid bow of lip and eyebrows with the absence of involvement of other structures on the CT of the face, such as the bony alveolus of the mandible, ethmoid labyrinth, and cribriform plate, makes the diagnosis of more common types of craniofacial Tessier clefts less likely at this stage.12 The neonate also remained stable throughout his NICU stay and had no complications related to feeding or breathing, making the clinical-radiological diagnosis of congenital heminasal aplasia with submucosal cleft more probable.Congenital heminasal aplasia is a rare entity and requires evaluation to rule out other craniofacial malformations, including ophthalmologic abnormalities.In asymptomatic neonates, routine care can be provided.Recognition of an associated submucosal cleft is essential to prevent complications related to speech and aspiration of feedings.Early reconstructive surgery of congenital heminasal hypoplasia for cosmetic purposes in asymptomatic patients can be planned in early infancy, and 3D-CT reconstructive images aid in better delineation of surgical anatomy.American Board of Pediatrics Neonatal-Perinatal Content SpecificationKnow the indications, limitations, and techniques for newborn screening for genetic disorders.