Megarbane syndrome

coloboma of the optic disc. Echocardiogram (ECHO) was normal. Evoked response audiometry (ERA) test revealed that left ear had a total hearing loss with unknown etiology and right ear had normal hearing. Eye consultation resulted, esotrophia in left eye, bilaterally optical disc coloboma, and coloboma of the iris in left eye. Denver developmental test showed mild mental retardation (IQ;52). Chromosomes (high-resolution Gand R-banding) were normal (46,XX). Her parents physical Þ ndings were normal. Some of these Þ ndings are also seen in, recessive Waardenburg microphthalmia syndrome, CHARGE syndrome, Lenz microphthalmia, and Megarbane syndrome [Table 1]. Waardenburg syndrome (WS) is a rare autosomaldominant condition characterized by sensory/neural hearing loss, pigmentary abnormalities of the skin, hair, and eyes, and craniofacial anomalies.[2] Our patients clinical Þ ndings are similar with the WSII, but she has not pigmentary abnormalities of the skin, hair, craniofacial anomalies, hands, and feet malformations. CHARGE syndrome was Þ rst described in 1979 by Hall Letters to the Editor

Waardenburg syndrome (WS) is a rare autosomaldominant condition characterized by sensory/neural hearing loss, pigmentary abnormalities of the skin, hair, and eyes, and craniofacial anomalies. [2]Our patient's clinical Þ ndings are similar with the WSII, but she has not pigmentary abnormalities of the skin, hair, craniofacial anomalies, hands, and feet malformations.

Caglayan Ahmet Okay, Dundar Munis
Erciyes University Medical Faculty Department of Medical Genetics, Kayseri, Turkey Sir, Megarbane et al. reported two male cousins from a consanguineous family. [1]In their cases syndrome consisting of minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations.We describe a new case who has megarbane diagnosis according to her clinical Þ ndings.Present case [Figure 1] is the only child of healthy nonconsanguineous divorced parents.Gestation was unremarkable.She was delivered by normal spontaneous vaginal way with siyanose at 38 weeks.Birth weight was 3800 g.Other measurements were unknown.When she was came to us she at the age of 6.She was 15 kg weight, 101 cm length, and an occipitofrontal circumference (OFC) of 47 cm (all below the 3rd centile).She had microcephaly, coloboma of the iris in left eye, strabismus, and mental retardation.Her blood glucose levels, urine analysis, aminoacid studies of plasma and urine, and liver and thyroid function studies, and other routin tests were unremarkable.et al. [3] in 17 children with multiple congenital abnormalities detected on the basis of choanal atresia.In 1981, Pagon et al. [4]  CHARGE syndrome is deÞ ned as a combination of the Þ ve major criteria or four major and three of the seven minor criteria, according to two landmark studies. [5,6]Our patient does not fulÞ ll these criteria.

Magnetic resonance (MR) imaging of the brain showed
Another rare condition that could be considered in the differential diagnosis is Al Frayh-Anophthalmia, microcephaly, hypogonadism, MR syndrome.Al Frayh and Haque [7] described a mentally retarded boy with anophthalmia/microphthalmia, hypotonia, coloboma of the iris, microcephaly, hypogonadism,failure to thrive, cardiac malformation, and short stature, but our patient hasn't hypogonadism, hypotonia, cardiac malformation and anophtalmia.
Lenz syndrome is a rare X-linked recessive condition Þ rst reported by Lenz. [8]All affected individuals have mental retardation, mild-to-severe microphthalmos, with colobomas in about 75% of cases.Our patients also have coloboma, microcephaly, mental retardation, and short stature.Carrier females in Lenz microphthalmia syndrome may have short stature, microcephaly, and mental retardation. [9,10]The absence of these manifestations in the mothers of our patients could be explained by the Lyon hypothesis.Nevertheless, the lack of some major components of Lenz syndrome [11] such as dental, digital, and urogenital anomalies, in addition to the severe mental retardation, distinct facial appearance, make a diagnosis of Lenz syndrome unlikely.
Although our patient has not skeletal malformations and inheritance of this case is uncertain, other many features thinking Megarbane syndrome.We described this case as a second Megarbane syndrome paper to the literature.Radial aplasia with oligodactyly has been described in the Al-Awadi / Rothschild syndrome / Schinzel phocomelia syndrome which has a wide clinical spectrum. [1]However, humeroradial and humeroulnar synostosis has been described only in the Schinzel phocomelia spectrum of disorders. [2]Hence, our patient is either a variant of this Address for Correspondence: Inusha Panigrahi, Genetic and Metabolic Unit, Advanced Pediatric Center, PGIMER, Sec-12, Chandigarh, India.E-mail: ketanpkulkarni@gmail.com coloboma of the optic disc.Echocardiogram (ECHO) was normal.Evoked response audiometry (ERA) test revealed that left ear had a total hearing loss with unknown etiology and right ear had normal hearing.Eye consultation resulted, esotrophia in left eye, bilaterally optical disc coloboma, and coloboma of the iris in left eye.Denver developmental test showed mild mental retardation (IQ;52).Chromosomes (high-resolution G-and R-banding) were normal (46,XX).Her parents physical Þ ndings were normal.Some of these Þ ndings are also seen in, recessive Waardenburg microphthalmia syndrome, CHARGE syndrome, Lenz microphthalmia, and Megarbane syndrome [Table

Figure 1 :
Figure 1: (A) Facial appearance of case at age 6 years.Note microcephaly.(B) ProÞ le of case.Note micrognathia, low set ears There was no history of drug intake in early gestation or of antenatal radiation exposure.On examination, there was mesomelic shortening of the forearms, skin dimpling, and oligodactyly, with absence of movement at the elbows [Figure1and 2a].There were no other Radial aplasia with oligodactyly Panigrahi Inusha, Kulkarni Ketan Prasad Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Center, PGIMER, Chandigarh, India dysmorphic features, and the child was developmentally and neurologically normal.The platelet count was 274.0 × 10 9 /L.The skiagram of upper limbs revealed humeroulnar fusion, ulnar campomelia, absent radius, and oligodactyly [Figure 2b].

Figure 2a :
Figure 2a: Left upper limb showing short forearm, small hand, absence of thumb, and presence of only three Þ ngers

Figure 1 :
Figure 1: Face and hands showing no signiÞ cant dysmorphism, mesomelic shortening of upper limbs, and oligodactyly