Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta

Savaş Mert Darakci; Sabahattin Ertuğrul; Sibel Tanrıverdi Yılmaz; Edip Ünal; İlyas Yolbaş; İbrahim Değer

doi:10.1515/crpm-2021-0035

Article Publicly Available

Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta

Savaş Mert Darakci , Sabahattin Ertuğrul , Sibel Tanrıverdi Yılmaz , Edip Ünal , İlyas Yolbaş and İbrahim Değer

Published/Copyright: November 15, 2021

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From the journal Case Reports in Perinatal Medicine Volume 10 Issue 1

Abstract

Objectives

Amniotic band syndrome and osteogenesis imperfecta are two distinct diseases that develop due to structural defects of the collagen protein. In our paper, we report the concurrence of these two diseases rarely seen in the newborn period.

Case presentation

A female infant born at 33rd gestational week was found to have constrictive bands in her right lower extremity and flexion contractures in distal joints of lower and upper extremities due to amniotic bands in postnatal physical examination. While being treated for respiratory difficulty, she was diagnosed with osteogenesis imperfecta and treated with bisphosphonates upon being found to suffer bilateral humeral fractures on the sixth day of life. She received respiratory support with mechanical ventilation due to respiratory tract complications related to osteogenesis imperfecta and died on the 384th day of life.

Conclusions

One should bear in mind that other collagen tissue diseases may accompany the amniotic band syndrome; this possibility should be definitely pursued if clinical suspicion exists.

Keywords: amniotic band syndrome; congenital clubfoot; hypotonia; micrognathism; osteogenesis imperfecta

Introduction

Amniotic band syndrome (ABS) is a rare cluster of congenital deformities characterized by extremity amputations, constriction bands, and syndactyly [1]. Its incidence ranges between 1:1,200 and 1:15,000 live births and has an equal sex distribution [2]. Amniotic band syndrome occurs sporadically, with its prognosis being dependent on the severity of anomalies and the degree of organ involvement [3]. There are limb anomalies such as clubfoot and craniofacial anomalies such as cleft lip and cleft palate in a third of all cases. Visceral abnormalities such as omphalocele and gastroschisis have also been related to ABS. Dermatological disorders can also be seen, such as the alteration of dermal pattern, absence of normal hair curl, abnormal manual wrinkles, and alopecia at band attachment sites [4, 5].

The incidence of concurrent ABS and osteogenesis imperfecta is even lower. As such, only three cases of concurrent osteogenesis imperfecta and ABS have been reported so far in the literature [6], [7], [8]. Spontaneous respiration could not be achieved in one of the reported cases and another patient survived only 7 days. Only one of the reported patients survived long-term [6]. Our patient is the fourth case of concurrent osteogenesis imperfecta and ABS.

Case presentation

A female infant was born by cesarean section at 33rd gestational week with a birth weight of 1,535 g as the fourth living child of the fourth pregnancy of a 27-year-old mother who did not attend regular antenatal follow-up visits. The patient was admitted to the neonatal intensive care unit with low birth weight, respiratory distress, and structural limb anomalies. In postnatal physical examination, she was found to have hypoactive primitive reflexes, hypotonia, a dysmorphic face appearance, a protruding forehead, short neck, low ear and hairlines, micrognathia, and bluish discoloration of sclerae in addition to the signs of respiratory distress. She had flexion contractures in the distal joints of both upper limbs, developmental dysplasia and flexion contracture in the hip joint, and bilateral pes equinovarus deformity, which are suggesting those are caused by intrauterine amniotic bands. There were two constrictive rings in the distal part of her right lower limb that were caused by an amniotic band in the intrauterine life; she also had an increased skin thickness, edema, and restricted mobility in the dorsum of the right foot. When the patient was evaluated multidisciplinary by orthopedics, radiology and plastic and reconstructive surgery, they were of the opinion that there was no deterioration in blood circulation and there was sufficient blood flow with Doppler ultrasound was performed, that is why there was no need to surgery. In the subsequent clinical follow-ups, it was observed that his circulation became more relieved, and no undesirable events developed. There was thoracic convex scoliosis to the right in the vertebral column. The cystic structure found in the umbilical cord was an umbilical cord cyst. She was free of any limb fracture in her initial examination (Figure 1). She had no familial history of consanguineous marriage, and her father, mother, and the other children of the family were free of any known structural or genetic disease.

Figure 1:

Constructive rings and structural anomalies due to amniotic band syndrome and osteogenesis imperfecta.

On the sixth day of the treatment a plain radiogram was taken for edema on both humeri and showed diaphyseal fractures and radiolucency in both humeri (Figure 2). For this reason, she was evaluated by the pediatric endocrinology department according to the current clinical findings, and the patient was diagnosed with osteogenesis imperfecta, and bisphosphonate treatment was started. Pamidronate was administered intravenously at a dose of 0.5 mg per kilogram for three consecutive days, and the same treatment was repeated three months later. She was consulted with the departments of plastic and reconstructive surgery and orthopedics. The lower extremities were then fixed with splints and bandages.

$Figure 2: Diaphyseal fractures of humerus bilaterally show up 6th day of treatment.$

Figure 2:

Diaphyseal fractures of humerus bilaterally show up 6th day of treatment.

The patient was evaluated for other possible accompanying anomalies. No vascular anomaly was found on arterial and venous color Doppler examinations of four limbs; an abdominal ultrasonographic examination found grade 1 pelvicaliectasis in the right kidney. In the follow-ups of the patient, it was observed that the pelvicaliectasis regressed and returned to normal. Transfontanelle ultrasound imaging showed a cephalohematoma with a size of 7 mm in the left occipital region. An echocardiogram revealed a patent foramen ovale. A magnetic resonance imaging study performed to examine accompanying vertebral anomalies was found a convex rotoscoliosis to the right. The patient could not pass the auditory test performed with the otoacoustic emission technique, and the acoustic brainstem response (ABR) test could not be performed since her clinical signs were not yet stabilized. Thus, she was deemed to have congenital hearing loss.

Her biochemical and hematological parameters showed no meaningful abnormality. In her genetic studies, a chromosome analysis from peripheral blood revealed a karyotype of 46, XX. Mutation analyses for osteogenesis imperfecta failed to show any mutation in the COLA1 and COL1A2 genes. SMN1 and SMN2 analyses to investigate hypotonia and weak deep tendon reflexes showed normal phenotypes of the said genes.

Discussion

Amniotic band syndrome is a rare structural collagen disorder [9]. It usually involves distal parts of the extremities. Its common signs are constriction rings, equinovarus deformity, amputation, and acrosyndactylia. It has also been shown to have non-classical signs such as cleft lip, cleft palate, and imperforate anus [10]. Osteogenesis imperfecta is a genetic disorder secondary to the structural and quantitative deficiency of type I collagen, which causes fragility in bones. It is known by a triad of blue sclerae, fragile bones, and deafness [11]. The presence of fragile bones is sufficient to suspect the diagnosis [12]. The spectrum of clinical signs ranges from a mild phenotype to the forms that are fatal in the perinatal period. Blue sclerae, generalized osteoporosis, and tooth abnormalities are the major criteria. Bone deformities, ligamentous laxity, deafness, easy bruising, and excessive sweating are the nonspecific minor criteria [13]. Our patient had long bone fractures that became clinically manifest with minor trauma, bone and joint deformities in the intrauterine life, and hearing loss. She was diagnosed with severe Sillence Type 3 osteogenesis imperfecta due to the absence of intrauterine fractures which first appeared on the postnatal 6th day in the long bones together with joint and bone deformities, blue sclerae, and hearing loss [14]. Her humeral fractures healed by splinting and bandaging in addition to bisphosphonate treatment.

There are mutations of the COL1A1 and COL1A2 genes in the majority of patients with osteogenesis imperfecta; however, it has also been shown that many different genetic mutations may cause the disease affecting collagen structure [14]. Our patient was free of mutations in the gene sequence analyses of the COL1A1 and COL1A2 genes; we, therefore, believe that it developed secondary to a rarer genetic mutation in our patient.

The concurrence of the ABS with other collagen tissue diseases such as Ehlers-Danlos syndrome and fatal osteogenesis imperfecta has been previously reported in the literature [6], [7], [8]. The concurrence of the ABS and osteogenesis imperfecta has been reported extremely rarely, with two of the three cases reported in the literature having the fatal phenotype and being deceased in the newborn period [6], [7], [8]. Our patient is the fourth reported case of this coexistence and survived 384 days. The patient was deceased to respiratory complications of osteogenesis imperfecta.

Conclusions

It should be kept in mind that other collagen tissue diseases such as osteogenesis imperfecta may accompany ABS; this possibility should be definitely pursued if clinical suspicion exists. Further studies are needed to better characterize the relationship between these two diseases. Families with such babies should be provided with genetic counseling and regular antenatal follow-up visits should be attended by pregnant women in order to make a prenatal diagnosis.

Corresponding author: Savas Mert Darakci, MD, Pediatrics and Child Health, Diyarbakır Egil County State Hospital, Eğil, Diyarbakir, Turkey, Phone: +90 553 958 89 21, E-mail: smertdarakci@gmail.com

Research funding: None declared.
Author contributions: SMD conceived of the article and participated in design and coordination. SE supervised the study. STY participated in literature review. EU carried out genetic studies and participated in design of article. IY drafted the manuscript. ID participated in collecting data. All authors read and approved the final manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Received: 2021-04-17

Accepted: 2021-11-02

Published Online: 2021-11-15

Articles in the same Issue

https://doi.org/10.1515/crpm-2021-0035

Keywords for this article

amniotic band syndrome; congenital clubfoot; hypotonia; micrognathism; osteogenesis imperfecta