Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Mégarbané, André; Al-Ali, Rashid; Choucair, Nancy; Lek, Monko; Wang, Ena; Ladjimi, Moncef; Rose, Catherine M.; Hobeika, Remy; Macary, Yvette; Temanni, Ramzi; Jithesh, Puthen V.; Chouchane, Aouatef; Sastry, Konduru S; Thomas, Remy; Tomei, Sara; Liu, Wei; Marincola, Francesco M.; MacArthur, Daniel; Chouchane, Lotfi

doi:10.1186/s12881-016-0304-4

BMC Medical Genetics

Table 2 Review of all cases with the Temple-Baraitser Syndrome and a comparison to the Zimmermann-Laband syndrome characteristics

From: Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

	Temple Baraitser Syndrome (TMBTS)									Zimmermann-Laband syndrome (ZLS)
	Present Patient	Temple and Baraitser (1991) [1]	Gabbett et al. (2008) [2] or Simons et al. (2014) Patient A	Jacquinet et al. (2010) [3] Patient 1 or Simons et al. (2014) Patient D	Jacquinet et al. (2010) [3] Patient 2 or Simons et al. (2014) Patient E	Yesil et al. (2013) or Simons et al. (2014) Patient C	Shen (2015) [5] Patient 1 or Simons et al. (2014) Patient F	Shen (2015) [5] Patient 2 or Simons et al. (2014) Patient B	Total of affected patients with TMBTS with KCNH1 mutations	Castori et al.(2013)	Zimmermann-Laband syndrome Kortüm et al. (2015) [18] KCNH1 mutations	Zimmermann-Laband syndrome Kortüm et al. (2015) [18] ATP6V1B2 mutations	Bramswig et al. (2015) [19] Individual 1	Bramswig et al. (2015) [19] Individual 2	Bramswig et al. (2015) [19] Individual 3	Bramswig et al. (2015) [19] Individual 4
Complicated Prgenancy	+	-	+	-	-	-	-	+		ND	ND	ND	ND	ND	ND	ND
Milestone
Birth weight	2,700 g (60^th percentile)	3,370 g^a	3,980 g (90^th centile)	3,590 g (50^th centile)	2,980 g (40^th centile)	3,600 g (50^th percentile)	7 pounds 7 ounces	3,544 g (50^th centile)					2,710 g	2,850 g	3,354 g	NA
Height at birth	48 cm (75^th percentile)		ND	ND	45 cm (10^th centile)	52 cm (50-75 percentile)							45 cm	50 cm	52 cm	NA
Head circumference at birth	33 cm (60^th percentile)	35.5 cm^a	ND	34 cm (30^th centile)	33 cm (40^th centile)								34 cm	35 cm	NA	NA
Clinical findings
Age (years)	0^9/12	3^5/12	4^4/12	6^10/12	1^1/12	3^7/12	0^9/12	5^6/12					14^1/12	4^4/12	3^9/12	13
Consanguinity	-	-	-	-	-	-	-	-					-	-	-	-
Limbs
Absence/hypoplasia of thumb nail	+	+	+	+	+	+	+	+ and of all fingers	8/8	52/52 Hypoplasia/aplasia of nails/phalanges	5/6 Hypoplasia/aplasia of nails	2/2 Hypoplasia/aplasia of nails	-	-	-	-
Absence/hypoplasia of hallux nail	+	+	+	+	+	+	+	+	8/8	52/52 Hypoplasia/aplasia of nails/phalanges	5/6	2/2	+	+	+	+
Broad thumbs terminally	+	-	+	+	+	+	-	+	6/8	ND	0/4	ND	-	-	+	-
Thumbs; long/proximaly set	+	ND	+	+	+	+	+	+	7/7	ND	3/4	ND	+	-	-	+
Adductus deformity of distal thumb	+	ND	+	+	+	+	+	+	7/7	N D	ND	ND	ND	ND	ND	ND
Pseudoepiphysis of the thumb	-	-	+	+	+	ND	ND	ND	3/5	ND	ND	ND	ND	ND	ND	ND
Pseudoepiphysis of the great toe	-	ND	-	+	-	ND	ND	Absence of the secondary ossification center and longer great toes		ND	ND	ND	ND	ND	ND	ND
Pseudoepiphysis of the distal thumb phalanges	-	+	+	+	+	+	no but malpatterned	no but malpatterned	5/8	ND	ND	ND	ND	ND	ND	ND
Hypoplasia of distal phalanges (II-V)	-	+	+	-	+	+	+	+	6/8	52/52 Hypoplasia/aplasia of nails/phalanges	4/5 Hypoplasia/aplasia of terminal phalanges; 1 NA	2/2 Hypoplasia/aplasia of terminal phalanges	ND	ND	ND	ND
Delay in epiphyseal maturation	+	ND	ND	ND	ND	ND	ND	ND		ND	ND	ND	ND	ND	ND	ND
Neurologic
Intellectual disability	+	+	+	+	N/A	+	+	+	7/7	21/52	6/6	2/2	+	+	+	+
Poor visual contact	+	+	ND	+	+	+	ND	ND	5/5	ND	ND	ND	ND	+	+	+
Autistic behavior	-	+	+	ND	ND	+	ND	ND	3/4	ND	ND	ND	ND	+	+	ND
Seizures	-	ND	+	+	+	+	One seizure	+	6/7	7/52	6/6	0/2 (patients ages: 22 and 5 years)	+	-	+	+
Hypotonia/motor retardation	+	+	+	+	+	+	+	+	8/8	6/52	6/6	2/2	+	+	+	+
Occipitofrontal circumference (centile)	10^th	10^th	25-50^th	25-50^th	25^th	ND	ND	ND		ND	ND	ND	ND	ND	ND	ND
Hearing loss	-	ND	ND	ND	ND	ND	ND	ND		2/52	1/4 2 NA	1/2	ND	ND	ND	ND
Abnormal MRI findings	-	Widespread cerebral atrophy	-	-	-	Mild frontotemporal atrophy	-	-		ND	2/4 2 NA	1/1 1 NA	-	Hypoplastic corpus callosum, cystic lesion pineal gland	-	Cystic lesion pineal gland
Dysmorphic features
Thoracic abnormalities	+	ND	ND	ND	-	ND	ND	ND		1 has Pectus carinatum and thoracic kyphosis. Others ND	1 has pectus carinatum	ND	ND	ND	ND	ND
Spine abnormalities	-	ND	ND	ND	ND	ND	ND	ND		8/52	5/6 Scoliosis	1 Scoliosis	ND	ND	ND	ND
Coarse face	+	ND	ND	ND	ND	ND	ND	ND		at least 1. Others ND	6/6	2/2	ND	ND	+	ND
Myopathic appearance	+	ND	+	+	+	+	+	+	7/7	ND	4/5	ND	+	+	+	+
Low anterior hairline	-	+	ND	ND	ND	ND	+	High anterior hairline		ND	1/6	ND	ND	ND	ND	ND
Coarse thick hair	-	ND	+	Hypertrichosis	-	+	ND	ND		Facial hypertrichosis in 8/52, body hypertrichosis in 19/52	Hypertrichosis 3/6	Marked hypertrichosis 2/2	+	+	+	+
Flat forehead	Bulging	+	+	+	+	+	ND	ND	5/6	ND	ND	ND	Prominent	ND	Broad and prominent	ND
Mild hypertelorism	+	+	-	+	+	+	+	+	7/8	6/52	4/5	ND	+	+	+	+
Epicanthal folds	+	-	+	-	+	+	-	-	4/8	ND	1/6	ND	-	+	+	-
Broad depressed nasal bridge	+	+	+	+	+	+	+	+	8/8	ND	3/4 depressed 5/5 broad	ND	+	+	+	Only broad
Short columella	+	-	+	+	+	+	-	+	6/8	ND	4/4	ND	+	+	+	-
Long philtrum	+	+	+	+	+	+	+	+	8/8	ND	2/6 1 short philtrum	1/2	ND	ND	ND	ND
Thick/full vermillion border of upper lip	-	ND	+	+	+	Upper and lower lip	Upper and lower lips	Tented vermilion of upper lip and everted thick vermilion of the lower lip	5/7	27 thick lips/macrostomia	5/6	ND	+	+	+	+
Broad mouth with downturned corners	+	ND	+	+	+	+	+	+	7/7	ND	4/4	ND	+	+	+	+
Gingival enlargement	+	-	-	-	-	-	-	-	1/8	52/52	5/6	2/2	+	+	+	+
Narrow and high palate	+	ND	+	ND	ND	ND	+	ND		11/52	ND	ND	ND	ND	ND	ND
Inverted nipples	Widely spaced	ND	ND	ND	ND	Widely spaced	ND	ND		ND	ND	ND	ND	ND	ND	ND
Systemic manifestations
Gastrointestinal symptoms	Constipation	Early feeding difficulties with recurrent vomiting	-	Severe gastroesophageal reflux in the neonatal period	ND	Constipation	-	Constipation		ND	3/6 have gastroesophageal reflux and/or constipation	ND	Constipation	Slight feeding problem	Constipation	Severe feeding problem
Small genitalia/endocrine anomalies	-	ND	ND	ND	ND	+	ND	ND		3/52 abnormal genitalia	ND	1 has macroorchidism	ND	ND	ND	ND
Cardiovascular system anomalies	-	ND	-	ND	ND	Atrial septal defect and mild pulmonary stenosis	ND	ND		6/52	ND	ND	-	ND	-	Open ductus bodalli

Abbreviations: +, present; −, absent; NA not analyzed, ND not documented, N/A not applicable, MRI magnetic resonance imaging
^a no standard deviation noted

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