Neonatal/Perinatal Case Presentation

Newborn With Transverse Facial Cleft Associated With Polyhydramnios

¹Department of Neonatal and Premature Medicine, Japanese Red Cross Katsushika Maternity Hospital, Tokyo, Japan

²Department of Obstetrics, Japanese Red Cross Katsushika Maternity Hospital, Tokyo, Japan

³Department of Pediatrics, Nippon Medical School, Tokyo, Japan

Correspondence to: Yoshio Shima, MD, 5-11-12, Tateishi, Katsushika-ku, Tokyo 124-0012, Japan

Abstract

We describe here the case of a female newborn baby with a bilateral complete transverse facial cleft. Obstetrical ultrasound had revealed an increased amount of amniotic fluid from 28 weeks' gestation without fetal hydrops or congenital anomalies. A 1900-g baby girl born at 36 weeks' gestation presented with bilateral wide facial clefts with macrostomia, microphthalmia, nose, and auricular deformities. Her breathing was dependent on life support, which was discontinued 2 hours after birth. An autopsy revealed no congenital malformations in vital organs but the absence of the olfactory nerves. Polyhydramnios and respiratory arrest after birth were presumed to be due to central disintegration of swallowing and breathing, in this case with brain anomaly. Journal of Perinatology (2002) 22, 91-92 DOI: 10.1038/sj/jp/7210595

INTRODUCTION

Facial cleft is one of the most common congenital malformations encompassing a broad spectrum of severity that ranges from minimal defects to large deep defects of the facial bones and soft tissues. Transverse facial cleft is an atypical form of cleft, usually involving other structures developed from the first and second branchial arches, and is a feature of various syndromes.¹ However, cases of severe bilateral transverse facial cleft are exceedingly rare, with only a few cases reported in the literature.^2,3 Because of the rarity of this condition, the pathogenesis and clinical features of this anomaly remain unclear. We describe here the case of a female neonate with bilateral transverse facial cleft, and discuss the association between polyhydramnios and acute respiratory failure after birth.

CASE REPORT

A 26-year-old woman (gravida 1, para 0) was referred to our hospital at 28 weeks' gestation for an obstetric consultation due to polyhydramnios. The height of her uterine fundus was 30 cm, and the abdominal circumference was 97 cm. Blood pressure as well as urine and blood chemical analyses were normal. There was no family history of congenital anomalies. Obstetrical ultrasound showed the fetus had no structural organ anomalies or signs of fetal hydrops. The amniotic fluid index was 29. Fetal biometric measures were concordant with gestational age. Doppler studies of the umbilical artery, fetal midcerebral artery and fetal heart rate were all normal. Subsequent ultrasound examinations at 32 and 35 weeks' gestation revealed no specific changes. In a limited obstetrical ultrasound examination, the fetal position prevented a precise scanning of her face. At 35 weeks' gestation, the patient was admitted because of membrane rupture. Four days later, she delivered a female baby vaginally, weighing 1900 g with Apgar scores of 5 and 3 at 1 and 5 min, respectively. Upon examination, the baby was found to have bilateral wide clefts extending through the cheeks and macrostomia. The nasal tip was depressed and the nostrils were not patent. The auricles were small and dysplastic, and she had bilateral microphthalmia (Figure 1). Despite the severe craniofacial deformities, no other congenital anomalies were found. The baby experienced severe dyspnea and cyanosis soon after birth. Endotracheal intubation and resuscitation was started immediately; however, she was unable to breathe unaided. Her parents wanted to discontinue further life support because of the severe facial deformity, and she died 2 hours after birth. No congenital malformations were found in vital organs upon autopsy. The lung pathology showed generalized atelectasis without an evidence of hyaline membrane formation and pneumonia. The olfactory nerves were absent in the brain. Chromosomal analysis of the patient was a normal female karyotype.

DISCUSSION

A transverse facial cleft and congenital macrostomia are rare congenital craniofacial anomalies. The estimated occurrence varies from 1 in 100 to 1 in 300 of all facial clefts.⁴ Although various classifications have been proposed to understand atypical facial clefts, Tessier's system, founded on the basis of his clinical observation, enjoys the widest acceptance today.⁵ Within the Tessier system, clefts are numbered around the orbit from 0 to 14, and clefts #0 to #7 depict the facial clefts. The patient described here demonstrated bilateral #7 clefts. The etiology of this anomaly is generally explained by the failure of fusion between the developing maxillary and mandibular processes of the first branchial arch.⁶ Amniotic band syndrome rarely causes such unusual manifestations of facial clefts;⁷ however, the clefting is generally not symmetric bilaterally. Other associated findings such as constriction rings and oligohydramnios are present. None of these were found during the careful examination of the baby.

Polyhydramnios without fetal hydrops had been observed from 28 weeks' gestation. A large facial cleft is sometimes known to cause fetal dysphagia,⁸ which can lead to polyhydramnios as it did in the present case. Although recent advances in surgical technique have produced better cosmetic and functional results, the overall prognosis of facial clefts depends primarily on the presence and type of associated anomalies.⁹ Chromosomal analysis of the baby demonstrated a normal karyotype, and the autopsy verified the presence of no additional congenital anomalies in vital organs except the absence of the olfactory nerves. The exact etiology of the respiratory arrest after birth, requiring assisted ventilation, was unknown. Brain anomaly possibly caused central disintegration of breathing and swallowing in this case because the pregnancy was complicated with polyhydramnios.

References

1 Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg 1965; 36: 485-508. MEDLINE

2 Gorlin RJ, Pindborg JJ, Cohen MM Jr. Lateral facial cleft and associated anomalies. In: Gorlin RJ, Pindborg JJ, Cohen MM Jr, editors. Syndromes of the Head and Neck. 2nd ed New York: McGraw-Hill, 1976, 174-5.

3 Talukder BC. Bilateral complete transverse facial cleft. J Pediatr Surg 1980; 15: 690-2. MEDLINE

4 Fog-Anderson P. Rare clefts of the face. Acta Chir Scand 1965; 129: 275-81.

5 Tessier P. Anatomical classification of facial, cranio-facial and latero-facial clefts. J Maxillo-Facial Surg 1976; 4: 69.

6 Keith A. Concerning the origin and nature of certain malformations of the face, head and foot. Br J Surg 1940; 28: 173-92.

7 Mayou BJ, Fenton OM. Oblique facial clefts caused by amniotic bands. Plast Reconstruct Surg 1981; 68: 675-81.

8 Milligan DA, Harlass FE, Duff P, Kopelman JN. Recurrence of Treacher Collins' syndrome with sonographic findings. Mil Med 1994; 159: 250-2. MEDLINE

9 Pashayan HM. What else to look for in a child born with a cleft of the lip and palate. Cleft Palate J 1983; 20: 54-82. MEDLINE

Figures

Figure 1 Front view of bilateral complete transverse facial clefts.

January 2002, Volume 22, Number 1, Pages 91-92

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