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Pierre Robin Syndrome

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PEDIATRICS Pierre Robin Syndrome NISHAD PATIL*, SUNIL MHASKE†, RAMESH B KOTHARI‡, SANDIP DEOKATE*, RAM SETHI*, PAVAN SURYAWANSHI*, RAHUL MASKI*, NIVRUTTI MUNDHE*, SURAJ NAIR# ABSTRACT Pierre Robin syndrome (or sequence) is a condition present at birth, in which the infant has a smaller-than-normal lower jaw, a tongue that falls back in the throat, and has difficulty in breathing. Most infants, but not all, will also have a cleft palate, but none will have a cleft lip. This heterogeneous birth defect has prevalence of approximately 1 per 8,500 live births. The male- to-female ratio is 1:1, except in the X-linked form. Autosomal recessive inheritance is possible. Keywords: Cleft soft palate, micrognathia, obstructive sleep apnea, otitis media ierre Robin sequence or complex is the name with good cry and weight at birth. The other siblings given to a birth condition that involves the lower (includes two males and two females) were not having Pjaw which is either small in size (micrognathia) or any congenital anomaly. On examination, her weight set back from the upper jaw (retrognathia). As a result, was 5.27 kg, length 61 cm, head circumference 39 cm the tongue tends to be displaced back towards the (normal - 44 cm) and chest circumference 38 cm. All throat, where it can fall back and obstruct the airway vital parameters were within normal limits as per her (glossoptosis). Most infants, but not all, will also have age. On head to toe examination, she was having high a cleft palate, but none will have a cleft lip. arched, U-shaped, cleft soft palate. Jaw was very small CASE REPORT with small receding chin (Figs. 1 and 2). A 6-month-old female child was brought to our out patient department (OPD) by mother with complaints of fever, cough and running nose since last 2 days. Fever was of gradual onset, slowly rising, intermittent, moderate grade without any chills or rigors. Cough was also of gradual onset, dry, intermittent, without any diurnal or postural variations. Parents gave history of repeated attacks of upper respiratory tract infections, associated with a single episode of otitis media in the past. Also parents gave history of disturbed sleep pattern of baby. She was fifth issue of nonconsanguineous Figure 1. Pierre Robin syndrome. marriage, born as a full-term, normal, hospital delivery *Resident †Professor and Head ‡Assistant Professor #Intern Dept. of Pediatrics, Padmashree Dr Vithalrao Vikhe Patil Medical College and Hospital Ahmednagar, Gujarat Address for correspondence Dr Sunil Mhaske Professor and Head, Dept. of Pediatrics Micrognathia Cleft palate Padmashree Dr Vithalrao Vikhe Patil Medical College and Hospital Near Govt. Milk Dairy, Vilad Ghat, Ahmednagar - 414 111, Gujarat Figure 2. Pierre Robin syndrome. 170 Indian Journal of Clinical Practice, Vol. 27, No. 2, July 2016 PEDIATRICS Also jaw was far back in throat and the tongue was The alveolar overjet is the distance between the most large compared to the jaw. There was a small opening anterior points of the upper and lower alveolar arches. in the roof of mouth, that caused choking. She was The maxillary arch is the measurement between the having congenital talipes equino varus (CTEV) of right 2 tragi via the subnasal point and the mandibular foot. Presently, there was no earache or ear discharge. arch is the distance from the right to the left tragus The systemic examination was not showing any passing through the pogonion. Glossoptosis is noted in abnormality. An opinion from ENT specialist was also 70-85% of reported cases. Macroglossia and taken to examine middle and inner ear, which stated no ankyloglossia are relatively rare findings. The active otitis media as well as any hearing loss. combination of micrognathia and glossoptosis may cause severe respiratory and feeding difficulty in the DISCUSSION newborn. Obstructive sleep apnea may also occur. It can Lannelongue and Menard first described Pierre affect the soft and hard palate and is usually U-shaped Robin syndrome in 1891 in a report on 2 patients or V-shaped (Fig. 5). Occasionally, it may present as a with micrognathia, cleft palate and retro-glossoptosis. bifid or double uvula or as an occult submucous cleft. In 1926, Pierre Robin published the case of an infant The most common otic anomaly is otitis media, with the complete syndrome. Until 1974, the triad followed by auricular anomalies. Hearing loss is mostly was known as “Pierre Robin syndrome”; however, conductive, while external auditory canal atresia occurs the term “syndrome” is now reserved for those errors in only 5% of patients. Temporal bone computerized of morphogenesis with the simultaneous presence of planigraphs demonstrate inadequate pneumatization multiple anomalies caused by a single etiology. of the mastoid cavities in many patients with Pierre The term “sequence” has been introduced to include Robin sequence. Nasal deformities are infrequent and any condition that includes a series of anomalies consist mostly of anomalies of the nasal root. Dental caused by a cascade of events initiated by a single malformation. Over the years, there have been several names given to the condition, including Pierre Robin syndrome, Pierre Robin triad. Based on the varying features and causes of the condition, either “Robin sequence” or “Robin complex” may be an appropriate description for a specific patient. Pierre Robin was a French physician who first reported the combination of small lower jaw, cleft palate and tongue displacement in 1923. This heterogeneous birth defect has prevalence of approximately 1 per 8,500 live births. The male- to-female ratio is 1:1, except in the X-linked form. Autosomal recessive inheritance is possible. An Figure 3. Pierre Robin syndrome. X-linked variant has been reported involving cardiac malformations and clubfeet. Otolaryngologic Manifestations Micrognathia is reported in the majority of cases (91.7%) (Figs. 3 and 4). It is characterized by retraction of the inferior dental arch 10-12 mm behind the superior arch. The mandible has a small body, obtuse genial angle and a posteriorly located condyle. The growth of the mandible catches up during the first year; however, mandibular hypoplasia resolves and the child attains a normal profile by approximately age 5-6 years. The jaw index is defined as the alveolar overjet multiplied by the maxillary arch divided by the mandibular arch. This index can be used to objectify mandibular growth. Figure 4. Micrognathia. Indian Journal of Clinical Practice, Vol. 27, No. 2, July 2016 171 PEDIATRICS deletion 4q syndrome, rheumatoid arthropathy, hypochondroplasia, Moebius syndrome, and CHARGE association. Pathogenesis Three pathophysiological theories exist to explain the occurrence of Pierre Robin sequence.  The mechanical theory: This theory is the most a b accepted. The initial event, mandibular hypoplasia, occurs between the 7th and 11th week of gestation. Figure 5. U-shaped cleft palate a( ); V-shaped cleft palate b( ). This keeps the tongue high in the oral cavity, causing a cleft in the palate by preventing the and philtral malformations occur in one third of cases. closure of the palatal shelves. This theory explains Laryngomalacia occurs in approximately 10-15% of the classic inverted U-shaped cleft and the absence patients with Pierre Robin sequence. Gastroesophageal of an associated cleft lip. Oligohydramnios could reflux and esophagitis has also been described. play a role in the etiology, since the lack of amniotic Speech defects occur frequently in patients with Pierre fluid could cause deformation of the chin and Robin sequence. Velopharyngeal insufficiency is usually subsequent impaction of the tongue between the more pronounced in these patients than in those with palatal shelves. isolated cleft palate.  The neurological maturation theory: A delay in neurological maturation has been noted on Systemic Manifestations electromyography of the tongue musculature, the In general, systemic anomalies can be seen in various pharyngeal pillars and the palate, as has a delay cases. Anomalies involving the musculoskeletal system in hypoglossal nerve conduction. The spontaneous are the most frequent systemic anomalies. They correction of the majority of cases with age supports include syndactyly, dysplastic phalanges, polydactyly, this theory. clinodactyly, hyperextensible joints and oligodactyly  The rhombencephalic dysneurulation theory: in the upper limbs. In the lower extremities, foot In this theory, the motor and regulatory anomalies (clubfeet, metatarsus adductus), femoral organization of the rhombencephalus is related to malformations (coxa varus or valgus, short femur), hip a major problem of ontogenesis. anomalies (flexure contractures, congenital dislocation), anomalies of the knee (genu valgus, synchondrosis) Conservative Management and tibial abnormalities have been reported. Vertebral  In the majority of patients, conservative column deformities include scoliosis, kyphosis, lordosis, management with close observation and follow- up vertebral dysplasia, sacral agenesis and coccygeal sinus. is successful. The natural history shows that with Cardiovascular findings such as benign murmurs, normal growth, airway compromise resolves pulmonary stenosis, patent ductus arteriosus, patent without immediate surgical intervention. Isolated foramen ovale, atrial septal defect and pulmonary Pierre Robin syndrome patients usually respond hypertension have all been documented. more favorably to the conservative approach.  Recently, Abel et al (2012) reported on long-
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